ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.627del (p.Phe210fs)

dbSNP: rs796052560
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
GeneDx RCV000187672 SCV000241269 pathogenic not provided 2013-10-11 criteria provided, single submitter clinical testing p.F210LfsX10: c.627delC in the GRIN2A gene (NM_000833.3). The c.627delC mutation in the GRIN2A gene has not been reported previously, to our knowledge. This mutation causes a frameshift starting with codon Phenylalanine 210, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Phe210LeufsX10 (F210LfsX10). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, loss of function due to a nonsense mutation in GRIN2A has been reported previously in association with a GRIN2A-related phenotype (Endele et al., 2010). We interpret c.627delC as a disease-causing mutation. This variant has been observed de novo without verified parentage. The variant is found in GRIN2A panel(s).
Institute of Human Genetics, University of Leipzig Medical Center RCV001781552 SCV002026169 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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.