ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) (rs1555394195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508231 SCV000603626 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825613 SCV000966965 pathogenic Marfan syndrome 2018-03-23 criteria provided, single submitter clinical testing The p.Cys2552X variant in FBN1 has been reported in 1 individual with clinical f eatures of Marfan syndrome (Regalado 2016) and was absent from large population studies. This variant has been reported in ClinVar by other clinical laboratorie s (Variation ID: 439701). This nonsense variant leads to a premature termination codon at position 2552, which is predicted to lead to a truncated or absent pro tein. Heterozygous loss of function of the FBN1 gene is an established disease m echanism in individuals with Marfan syndrome. In summary, this variant meets cri teria to be classified as pathogenic for Marfan syndrome in an autosomal dominan t manner based upon the predicted impact to the protein, presence in an affected individual, and absence from controls. ACMG/AMP Criteria applied (Richards 2015 ): PVS1; PM2; PS4_Supporting.
University of Washington Center for Mendelian Genomics, University of Washington RCV000755192 SCV000883021 likely pathogenic Familial thoracic aortic aneurysm; Acute aortic dissection 2016-01-20 no assertion criteria provided research

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