ClinVar Miner

Submissions for variant NC_000005.9:g.(?_161520814)_(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 RCV001972695 SCV002247413 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-03-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GABRG2 protein in which other variant(s) (p.Arg363Glyfs*29) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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) 2-9 of the GABRG2 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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