ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2191G>C (p.Asp731His)

dbSNP: rs796052549
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658207 SCV000779978 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GRIN2A gene. The D731H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The D731H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missensevariants in nearby residues have been reported in the Human Gene Mutation Database in individualswith GRIN2A-related disorders (Stenson et al., 2014). Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign 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.