ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)

dbSNP: rs397518472
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000260469 SCV000329755 pathogenic not provided 2015-12-23 criteria provided, single submitter clinical testing The R681X nonsense variant in the GRIN2A gene has been reported previously in an individual with Landau-Kleffner syndrome; it was also identified in other family members with learning disabilities and in an unaffected relative (Lemke et al., 2013). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R681X as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV000074393 SCV002026193 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000260469 SCV002063489 pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
OMIM RCV000074393 SCV000106003 pathogenic Landau-Kleffner syndrome 2013-09-01 no assertion criteria provided literature only

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.