ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)

dbSNP: rs1332403498
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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 RCV003783650 SCV004570908 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1387*) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 27906200). For these reasons, this variant has been classified as Pathogenic.

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