ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter)

dbSNP: rs1060501034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385980 SCV001586038 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2016-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2157 (p.Tyr2157*) of the FBN1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843) For these reasons, this variant has been classified as Pathogenic.

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