ClinVar Miner

Submissions for variant NC_000005.9:g.(?_161495006)_(161580374_?)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 RCV001381607 SCV001580060 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-10-26 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GABRG2 gene has been identified. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). 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 GABRG2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 22190369, 24811917, 31471553). For these reasons, this variant has been classified as Pathogenic.

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