ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)

dbSNP: rs267606797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701293 SCV000830086 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2113*) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Marfan syndrome (PMID: 8430317). ClinVar contains an entry for this variant (Variation ID: 16430). Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Centre of Medical Genetics, University of Antwerp RCV000017892 SCV002025384 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
OMIM RCV000017892 SCV000038171 pathogenic Marfan syndrome 2002-07-15 no assertion criteria provided literature only

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