ClinVar Miner

Submissions for variant NC_000008.10:g.(?_11565822)_(11615984_?)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 RCV004583283 SCV005062894 pathogenic Atrioventricular septal defect 4 2023-10-22 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GATA4 gene has been identified. Loss-of-function variants in GATA4 are known to be pathogenic (PMID: 12845333, 15235040). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of GATA4 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 21834050, 25205790, 25516202). For these reasons, this variant has been classified as Pathogenic.

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