ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6423del (p.Gln2141fs)

dbSNP: rs2141240428
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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 RCV001917461 SCV002165438 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1389880). This premature translational stop signal has been observed in individual(s) with clinical features of FBN1-related disease (PMID: 12068374). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2141Hisfs*19) 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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