ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2567G>A (p.Arg856Gln)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002425970 SCV002741690 uncertain significance Inborn genetic diseases 2018-03-06 criteria provided, single submitter clinical testing The p.R856Q variant (also known as c.2567G>A), located in coding exon 11 of the GRIN2A gene, results from a G to A substitution at nucleotide position 2567. The arginine at codon 856 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775298 SCV004674103 likely benign Landau-Kleffner syndrome 2024-02-12 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.