ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter)

dbSNP: rs1554101224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007291 SCV002227683 pathogenic EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8 2021-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg425*) in the GABRG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the GABRG2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GABRG2-related conditions (PMID: 26633542). This variant disrupts a region of the GABRG2 protein in which other variant(s) (p.Trp429*) have been determined to be pathogenic (PMID: 18566737). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003146408 SCV003832473 likely pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing

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