{"id":2144,"date":"2026-02-13T18:28:17","date_gmt":"2026-02-13T18:28:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2144"},"modified":"2026-02-22T00:10:43","modified_gmt":"2026-02-22T00:10:43","slug":"reclassification-of-variants-of-uncertain-significance-in-type-1-collagen-genes-a-national-reference-laboratory-experience","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/13\/reclassification-of-variants-of-uncertain-significance-in-type-1-collagen-genes-a-national-reference-laboratory-experience\/","title":{"rendered":"Reclassification of variants of uncertain significance in type 1 collagen genes: a national reference laboratory experience (Contributed by Professor Meena Balasubramanian)"},"content":{"rendered":"

Osteogenesis Imperfecta\u00a0 (OI) is an important condition to diagnose early to ensure children are monitored and treated in a timely manner. Increased access to genetic testing has enabled more diagnosis but this can be complicated by \u2018Variants of uncertain significance (VUS)\u2019 which results in uncertainty. Using England\u2019s national OI database, we undertook an iterative analysis of such variants allowing reclassification following updated guidelines. This work transformed uncertain genetic results into actionable clinical information. (https:\/\/jmg.bmj.com\/content\/early\/2026\/02\/10\/jmg-2025-111334<\/a> )<\/p>\n

\"\"<\/a><\/p>\n

The Balasubramanian lab<\/a> @ University of Sheffield is working on VUS in OI and other collagen-related disorders using functional assays to validate the pathogenicity of such variants.<\/p>\n","protected":false},"excerpt":{"rendered":"

Osteogenesis Imperfecta\u00a0 (OI) is an important condition to diagnose early to ensure children are monitored and treated in a timely manner. Increased access to genetic testing has enabled more diagnosis but this can be complicated by \u2018Variants of uncertain significance (VUS)\u2019 which results in uncertainty. Using England\u2019s national OI database, we undertook an iterative analysis […]<\/p>\n

Read More…<\/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-2144","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nReclassification of variants of uncertain significance in type 1 collagen genes: a national reference laboratory experience (Contributed by Professor Meena Balasubramanian) - 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\/2026\/02\/13\/reclassification-of-variants-of-uncertain-significance-in-type-1-collagen-genes-a-national-reference-laboratory-experience\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reclassification of variants of uncertain significance in type 1 collagen genes: a national reference laboratory experience (Contributed by Professor Meena Balasubramanian) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Osteogenesis Imperfecta\u00a0 (OI) is an important condition to diagnose early to ensure children are monitored and treated in a timely manner. 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