ClinVar Miner

Submissions for variant NC_000005.10:g.(?_162101215)_(162104046_?)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 RCV001032412 SCV001195719 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2019-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 23720301, 24407264). This variant has not been reported in the literature in individuals with GABRG2-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 5-6 of the GABRG2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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