ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His)

dbSNP: rs876661167
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 RCV000214952 SCV000279701 likely pathogenic not provided 2021-12-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34695666, 28377535, 31526516)
Labcorp Genetics (formerly Invitae), Labcorp RCV000812933 SCV000953263 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2019-03-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in individuals affected with early infantile epileptic encephalopathy (PMID: 28377535, Invitae). ClinVar contains an entry for this variant (Variation ID: 234696). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 1111 of the GRIN2B protein (p.Arg1111His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
Baylor Genetics RCV001172342 SCV003836346 likely pathogenic Intellectual disability, autosomal dominant 6 2022-03-21 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.