Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001316148 | SCV001506753 | likely pathogenic | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2023-08-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1017056). This missense change has been observed in individuals with clinical features of GABRG2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 287 of the GABRG2 protein (p.Val287Ile). 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) performed at Invitae indicates that this missense variant is expected to disrupt GABRG2 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |