ClinVar Miner

Submissions for variant NC_000005.10:g.(?_162067980)_(162068126_?)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 RCV001032112 SCV001195419 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2020-01-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the GABRG2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the GABRG2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GABRG2-related conditions. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). For these reasons, this variant has been classified as Pathogenic.

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