ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8080del (p.Arg2694fs)

dbSNP: rs2505375770
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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 RCV003040226 SCV003350188 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-04-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FBN1 protein in which other variant(s) (p.Gln2867*) have been determined to be pathogenic (PMID: 19293843). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2694Glufs*58) in the FBN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 178 amino acid(s) of the FBN1 protein.

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