ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu)

gnomAD frequency: 0.00001  dbSNP: rs777328885
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000639591 SCV000761168 likely benign Landau-Kleffner syndrome 2022-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529981 SCV003543047 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.4245C>A (p.D1415E) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a C to A substitution at nucleotide position 4245, causing the aspartic acid (D) at amino acid position 1415 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.