ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)

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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 RCV002871716 SCV003234316 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp121*) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2027142). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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