ClinVar Miner

Submissions for variant NC_000015.9:g.(?_26107444)_(28230334_?)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 RCV003105342 SCV003794369 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-11-03 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GABRB3 gene has been identified. Loss-of-function variants in GABRB3 are known to be pathogenic (PMID: 26950270, 28053010). 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 GABRB3 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 11198279). For these reasons, this variant has been classified as Pathogenic.

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