Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000806748 | SCV000946763 | likely pathogenic | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2021-07-06 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to be de novo in an individual affected with GABRG2-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 167 of the GABRG2 protein (p.Asn167Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. |
| Gene |
RCV003328631 | SCV004035418 | pathogenic | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31440721, 35359574) |