{"id":1802,"date":"2022-12-07T23:41:04","date_gmt":"2022-12-07T23:41:04","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1802"},"modified":"2026-02-23T00:25:31","modified_gmt":"2026-02-23T00:25:31","slug":"optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/07\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\/","title":{"rendered":"Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines (Contributed by Dr. Xi Luo)"},"content":{"rendered":"<p>Accurate interpretation of <em>CDH1 <\/em>germline variants is critical for physicians and individuals with pathogenic or likely pathogenic variants in <em>CDH1 <\/em>who are faced with consideration of potentially morbid risk-reduction strategies including total gastrectomy and bilateral mastectomy in females.<em> CDH1<\/em>-specific variant classification guidelines have been developed by the Clinical Genome Resource (ClinGen) <em>CDH1 <\/em>Variant Curation Expert Panel and recently updated. Here, we demonstrate that the <em>CDH1<\/em>-specific guidelines reduced the number of variants of uncertain significance submitted to ClinVar and resolved clinically significant conflicts. These guidelines should be utilized to classify germline <em>CDH1 <\/em>variants to provide the best information to patients and physicians and further support routine updates to gene-specific variant curation guidelines. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/12\/06\/jmg-2022-108807\">https:\/\/jmg.bmj.com\/content\/early\/2022\/12\/06\/jmg-2022-108807<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/07\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\/figure-2-3\/\" rel=\"attachment wp-att-1803\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1803\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-300x133.jpg\" alt=\"\" width=\"300\" height=\"133\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-300x133.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-1024x452.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-768x339.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-1536x679.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-2048x905.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-640x283.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Accurate interpretation of CDH1 germline variants is critical for physicians and individuals with pathogenic or likely pathogenic variants in CDH1 who are faced with consideration of potentially morbid risk-reduction strategies including total gastrectomy and bilateral mastectomy in females. CDH1-specific variant classification guidelines have been developed by the Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/07\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1802","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines (Contributed by Dr. Xi Luo) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/07\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines (Contributed by Dr. Xi Luo) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Accurate interpretation of CDH1 germline variants is critical for physicians and individuals with pathogenic or likely pathogenic variants in CDH1 who are faced with consideration of potentially morbid risk-reduction strategies including total gastrectomy and bilateral mastectomy in females. CDH1-specific variant classification guidelines have been developed by the Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/07\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-12-07T23:41:04+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:25:31+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/Figure-2-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1131\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines (Contributed by Dr. Xi Luo)\",\"datePublished\":\"2022-12-07T23:41:04+00:00\",\"dateModified\":\"2026-02-23T00:25:31+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/\"},\"wordCount\":143,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/12\\\/Figure-2-300x133.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/07\\\/optimising-clinical-care-through-cdh1-specific-germline-variant-curation-improvement-of-clinical-assertions-and-updated-curation-guidelines\\\/\",\"name\":\"Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines (Contributed by Dr. Xi Luo) - 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