ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter)

dbSNP: rs1342803259
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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 RCV001909652 SCV002187055 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-08-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This sequence change creates a premature translational stop signal (p.Gly2067*) 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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