ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) (rs1555103971)

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
Ambry Genetics RCV000624241 SCV000740775 pathogenic Inborn genetic diseases 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000689699 SCV000817363 uncertain significance Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2018-02-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 696 of the GRIN2B protein (p.Arg696His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with severe intellectual disability, developmental delay and features of autism (PMID: 27839871). Experimental studies have shown that this missense change caused an increase in glutamate potency (PMID: 27839871). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GenomeConnect, ClinGen RCV000578652 SCV000681402 not provided Mental retardation, autosomal dominant 6 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.