Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001322423 | SCV001513293 | uncertain significance | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2023-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 215 of the GABRG2 protein (p.Arg215Cys). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GABRG2 protein function. ClinVar contains an entry for this variant (Variation ID: 1022508). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is present in population databases (rs746626989, gnomAD 0.04%). |
Gene |
RCV002307726 | SCV002601460 | uncertain significance | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |