ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6322del (p.Arg2108fs)

dbSNP: rs2141240943
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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 RCV001924069 SCV002200327 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2108Alafs*52) 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 variant has not been reported in the literature in individuals affected with FBN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1424832). For these reasons, this variant has been classified as Pathogenic.

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