{"id":2236,"date":"2026-10-02T16:31:10","date_gmt":"2026-10-02T16:31:10","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2236"},"modified":"2026-10-02T16:31:30","modified_gmt":"2026-10-02T16:31:30","slug":"alternative-causative-variants-explain-phenotypic-severity-in-historical-reports-of-nf2-missense-variant-carriers-contributed-by-dr-miriam-j-smith","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/10\/02\/alternative-causative-variants-explain-phenotypic-severity-in-historical-reports-of-nf2-missense-variant-carriers-contributed-by-dr-miriam-j-smith\/","title":{"rendered":"Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers (Contributed by Dr Miriam J Smith)"},"content":{"rendered":"

NF2-related schwannomatosis is an inherited neurogenetic condition that increases the chance of developing nervous system tumours, especially vestibular schwannomas that affect hearing. This article revisits three NF2 genetic variants reported in 1994 as possible causes of the condition. One variant, c.185T>C p.(Phe62Ser), remains likely to be pathogenic and is linked with milder symptoms. However, two other changes, c.1055C>T p.(Thr352Met) and c.317A>G p.(Glu106Gly), are unlikely to be causative, as subsequent testing found different, clearly pathogenic, NF2 variants in the affected families. We conclude that these two variants are benign and should not be used in genetic diagnosis of NF2-related schwannomatosis. (https:\/\/jmg.bmj.com\/content\/early\/2026\/09\/29\/jmg-2026-111894<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

NF2-related schwannomatosis is an inherited neurogenetic condition that increases the chance of developing nervous system tumours, especially vestibular schwannomas that affect hearing. This article revisits three NF2 genetic variants reported in 1994 as possible causes of the condition. One variant, c.185T>C p.(Phe62Ser), remains likely to be pathogenic and is linked with milder symptoms. However, two […]<\/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-2236","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nAlternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers (Contributed by Dr Miriam J Smith) - 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\/10\/02\/alternative-causative-variants-explain-phenotypic-severity-in-historical-reports-of-nf2-missense-variant-carriers-contributed-by-dr-miriam-j-smith\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers (Contributed by Dr Miriam J Smith) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"NF2-related schwannomatosis is an inherited neurogenetic condition that increases the chance of developing nervous system tumours, especially vestibular schwannomas that affect hearing. 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