ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)

dbSNP: rs397515755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035115 SCV000058755 pathogenic Marfan syndrome 2015-12-04 criteria provided, single submitter clinical testing The p.Cys365X variant in FBN1 has been reported in 1 Caucasian adult with Marfan syndrome (Lerner-Ellis 2014, LMM published data) and segregated with disease in 1 affected relative. It was absent from large population studies (dbSNP rs39751 5755). This nonsense variant leads to a premature termination codon at position 365, which is predicted to lead to a truncated or absent protein. Heterozygous l oss-of-function of the FBN1 gene is associated with Marfan syndrome. In summary, the p.Cys365X variant meets our criteria to be classified as pathogenic for Mar fan syndrome in an autosomal dominant manner based upon predicted impact to the protein and absence from controls.

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