ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7580A>C (p.Glu2527Ala) (rs397515853)

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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 RCV000035273 SCV000058921 likely pathogenic Marfan syndrome 2016-02-29 criteria provided, single submitter clinical testing The p.Glu2527Ala variant in FBN1 has been identified in 2 individuals with clini cal features of Marfan syndrome and segregated with disease in 2 affected relati ves from 2 families (LMM data). It was also absent from large population studies . Computational prediction tools and conservation analysis suggest that this var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required t o fully establish its clinical significance, the p.Glu2527Ala variant is likely pathogenic.

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