Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002007291 | SCV002227683 | pathogenic | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2021-11-30 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with GABRG2-related conditions (PMID: 26633542). For these reasons, this variant has been classified as Pathogenic. 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. This variant is not present in population databases (gnomAD no frequency). 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. |
Revvity Omics, |
RCV003146408 | SCV003832473 | likely pathogenic | not provided | 2023-09-22 | criteria provided, single submitter | clinical testing |