Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Biologie Pathologie Génétique, |
RCV002274001 | SCV002558967 | likely pathogenic | Neurodevelopmental delay | criteria provided, single submitter | clinical testing | ||
Institute Of Human Genetics Munich, |
RCV000240945 | SCV002764716 | pathogenic | Developmental and epileptic encephalopathy, 43 | 2022-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518557 | SCV003442744 | pathogenic | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2022-09-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GABRB3 function (PMID: 26950270). 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 GABRB3 protein function. ClinVar contains an entry for this variant (Variation ID: 254261). This missense change has been observed in individual(s) with Lennox-Gastaut syndrome (PMID: 23934111). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 120 of the GABRB3 protein (p.Asp120Asn). |
Gene |
RCV003322765 | SCV004028415 | pathogenic | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect and suggest that this variant is damaging to b3 GABA channel function (Janve et al., 2016); 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: 25124326, 27476654, 26645412, 23934111, 30728247, 32467926, 33004838, 34906499, 34698933, 35718920, 36077081, 33301879, 37176165, 26950270) |
OMIM | RCV000240945 | SCV000299351 | pathogenic | Developmental and epileptic encephalopathy, 43 | 2013-09-12 | no assertion criteria provided | literature only |