ClinVar Miner

Submissions for variant NC_000012.12:g.(?_114401806)_(114401940_?)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 RCV000807934 SCV000948014 pathogenic Aortic valve disease 2 2018-08-07 criteria provided, single submitter clinical testing 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. 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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