ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln)

dbSNP: rs763315364
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
Invitae RCV000809095 SCV000949235 likely benign Landau-Kleffner syndrome 2024-01-03 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000809095 SCV002820114 uncertain significance Landau-Kleffner syndrome criteria provided, single submitter clinical testing The missense variant p.H358Q in GRIN2A (NM_000833.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The missense variant c.1074C>G (p.H358Q) in ? (NM_000833.5) is observed in 10/30616 (0.0327%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. the variant is damaging by predictions and the resiude is weakly conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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.