ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.362+2T>C

dbSNP: rs1593881162
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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 RCV000823855 SCV000964726 pathogenic Aortic valve disease 2 2018-12-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). Disruption of this splice site has been observed in an individual with Holt-Oram syndrome (PMID: 16183809). This variant is not present in population databases (ExAC no frequency). 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.

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