ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.390del (p.Met131fs) (rs1565941046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700317 SCV000829067 pathogenic Aortic valve disease 2 2018-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met131Cysfs*19) in the TBX5 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 not been reported in the literature in individuals with TBX5-related disease. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909). For these reasons, this variant has been classified as Pathogenic.

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