ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2448C>G (p.Cys816Trp) (rs397515771)

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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 RCV000035140 SCV000058781 likely pathogenic Marfan syndrome 2017-05-05 criteria provided, single submitter clinical testing The p.Cys816Trp variant in FBN1 has been identified by our laboratory in 1 indiv idual with suspected Marfan syndrome and several variants at this codon (p.Cys81 6Arg, p.Cys816Gly, p.Cys816Phe, and p.Cys816Ser) have been identified in the lit erature in individuals with Marfan syndrome (Collod-Beroud 1998, Lledo 2006, Tje ldhorn 2006, Attanasio 2008). Of note, this variant affects a cysteine residue, which is highly conserved across species and cysteine substitutions are a common finding in individuals with Marfan syndrome (Schrijver 1999). This variant was also absent from large population studies. Computational prediction tools and co nservation analysis suggest that the p.Cys816Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinic al significance, the p.Cys816Trp variant is likely pathogenic.

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