ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.362+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823855 SCV000964726 pathogenic Aortic valve disease 2 2018-12-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the TBX5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in an individual with Holt-Oram syndrome (PMID: 16183809). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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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