ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)

dbSNP: rs797045045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431904 SCV000536639 pathogenic not provided 2019-06-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28544625, 29661262, 31435640)
Labcorp Genetics (formerly Invitae), Labcorp RCV000699220 SCV000827921 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2019-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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 individuals affected with Dravet syndrome  (PMID: 28544625) and early onset treatable multifocal epilepsy with moderate intellectual disability (PMID: 28053010). ClinVar contains an entry for this variant (Variation ID: 393256). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 232 of the GABRB3 protein (p.Arg232Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260891 SCV001437991 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.