ClinVar Miner

Submissions for variant NC_000005.9:g.(?_161520814)_(161531052_?)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 RCV004579011 SCV005063001 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the GABRG2 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 GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264).

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