ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.497G>C (p.Cys166Ser) (rs397515818)

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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 RCV000035218 SCV000058863 likely pathogenic Marfan syndrome 2012-04-17 criteria provided, single submitter clinical testing The Cys166Ser variant (FBN1) has been reported in one individual with clinical f eatures of Marfan syndrome (Biggin 2004). In addition, functional analysis revea ls that the variant affects normal fibrillin microfibril assembly (Massan-Wu 201 0). Furthermore, this variant alters a conserved cysteine residue which is predi cted to disrupt a disulfide bridge in an EGF-like domain of the protein. Cystein e residue alterations in EGF-like domains of FBN1 are commonly altered in patien ts with clinical features of Marfan syndrome (Schrijver 1999). In summary, this variant is likely to be pathogenic, though segregation studies and functional an alyses are required to fully establish the pathogenicity of this variant.

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