ClinVar Miner

Submissions for variant NC_000012.12:g.(?_114401816)_(114401930_?)del

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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 RCV000818558 SCV000959177 pathogenic Aortic valve disease 2 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909). This variant has not been reported in the literature in individuals with TBX5-related disease. This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the TBX5 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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