ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7498T>A (p.Cys2500Ser) (rs363810)

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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 RCV000611583 SCV000710904 likely pathogenic Marfan syndrome 2016-06-22 criteria provided, single submitter clinical testing The p.Cys2500Ser variant in FBN1 has been reported in one individual with clinic al features of Marfan syndrome (Ng 2002) and was absent from large population st udies. Computational prediction tools and conservation analysis suggest that thi s variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. Furthermore, this variant affects a conserved cys teine residue in the EGF-like domain, which is a common finding in individuals w ith Marfan syndrome (Schrijver 1999). In summary, although additional studies ar e required to fully establish its clinical significance, the p.Cys2500Ser varian t is likely pathogenic.

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