ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)

dbSNP: rs1595445975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004669 SCV001164120 uncertain significance Developmental and epileptic encephalopathy, 43 2016-09-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260774 SCV001437866 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Mendelics RCV002249619 SCV002516429 pathogenic Epilepsy, childhood absence, susceptibility to, 5 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769407 SCV004573335 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg232*) in the GABRB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRB3 are known to be pathogenic (PMID: 26950270, 28053010). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GABRB3-related conditions (PMID: 28053010). ClinVar contains an entry for this variant (Variation ID: 813738). For these reasons, this variant has been classified as Pathogenic.

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