ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3685A>T (p.Thr1229Ser)

gnomAD frequency: 0.00004  dbSNP: rs747136651
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 RCV000187663 SCV000241260 uncertain significance not provided 2015-01-02 criteria provided, single submitter clinical testing p.Thr1229Ser (ACC>TCC): c.3685 A>T in exon 14 of the GRIN2A gene (NM_000833.3). The T1229S variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved in mammals; however, this position is not conserved in more distantly related species, and Serine has been seen at this position in evolution. Additionally, the T1229S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002514007 SCV003455338 likely benign Landau-Kleffner syndrome 2023-01-19 criteria provided, single submitter clinical testing

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.