ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)

dbSNP: rs267606837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203209 SCV001374361 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 934755). This premature translational stop signal has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 29778030). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg177*) 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).
GeneDx RCV003129731 SCV003805364 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing Reported previously as a predicted deleterious variant in a child with intractable epilepsy (Hesse et al., 2018).; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24407264, 23720301, 22750526, 22539854, 29778030, 35701389, 35627257)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142129 SCV003807819 pathogenic Developmental and epileptic encephalopathy, 74 2023-01-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated

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