ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1955C>G (p.Ala652Gly)

dbSNP: rs879253912
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 RCV000235490 SCV000292775 likely pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing An variant that is likely pathogenic has been identified in the GRIN2B gene. The A652G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A652G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution alters a highly conserved position predicted to be within the pore domain of the GRIN2B protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, targeted parental test results indicate the A652G variant is apparently de novo in this individual. Therefore, we now interpret A652G as a likely pathogenic variant; however, the possibility that it is benign cannot be excluded.

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.