ClinVar Miner

Submissions for variant NC_000012.11:g.(?_114823261)_(114823392_?)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 RCV001953634 SCV002240574 pathogenic Aortic valve disease 2 2021-08-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the TBX5 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909). A similar copy number variant has been observed in individual(s) with Holt-Oram syndrome (PMID: 30552424). For these reasons, this variant has been classified as Pathogenic.

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