ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs)

dbSNP: rs2505540666
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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 RCV002601768 SCV002949933 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Marfan syndrome (PMID: 31830381). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met1275Leufs*6) 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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