ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2942G>C (p.Cys981Ser) (rs727505110)

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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,Partners HealthCare Personalized Medicine RCV000156563 SCV000206282 likely pathogenic Marfan syndrome 2014-09-09 criteria provided, single submitter clinical testing The Cys981Ser variant in FBN1 has been reported in two individuals with clinical features of Marfan syndrome, 1 in which occured de novo (Sakai 2006; LMM unpubl ished data). It was absent from large population studies. Computational predicti on tools and conservation analysis suggest that this variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, although additional studies are required to fully establish its cl inical significance, the Cys981Ser variant is likely pathogenic.

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