ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.561del (p.Phe187fs) (rs397515825)

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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 RCV000035231 SCV000058876 likely pathogenic Marfan syndrome 2014-02-17 criteria provided, single submitter clinical testing The Phe187fs variant in FBN1 has now been identified by our laboratory in two in dividuals with clinical features of Marfan syndrome, and was shown to have occur red de novo in one of these individuals (LMM unpublished data). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at pos ition 187 and lead to a premature termination codon 3 amino acids downstream. Th is alteration is then predicted to lead to a truncated or absent protein. In sum mary, this variant is likely to be pathogenic, though additional studies are req uired to fully establish its clinical significance.

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