ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter)

dbSNP: rs1555394402
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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 RCV000690558 SCV000818246 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 569834). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 12161601). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr2466*) 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).

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