ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu)

dbSNP: rs2141136377
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
New York Genome Center RCV001591761 SCV001815824 uncertain significance Landau-Kleffner syndrome 2020-09-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003127993 SCV003802811 uncertain significance not provided 2022-09-29 criteria provided, single submitter clinical testing The GRIN2A c.2870G>A (p.Gly957Glu) missense variant results in the substitution of glycine at amino acid position 957 with glutamic acid. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.2870G>A (p.Gly957Glu) variant is classified as a variant of uncertain significance for GRIN2A-related complex neurodevelopmental disorder.

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.