ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1056_1057delinsCG (p.Arg353Gly)

dbSNP: rs2145680059
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388325 SCV001589259 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg353 amino acid residue in KCNQ2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29726930, 25959266, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This missense change has been reported to affect KCNQ2 protein function (PMID: 14985406, 19494108, 24349250, 24489773, 17993630, 22643219). This missense change has been observed in individual(s) with benign familial neonatal-infantile seizures (PMID: 14985406). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 353 of the KCNQ2 protein (p.Arg353Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine.

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.