ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1250G>A (p.Arg417His)

dbSNP: rs745965148
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462226 SCV000553813 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2020-02-07 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs745965148, ExAC <0.01%) but has not been reported in the literature in individuals with a KCNT1-related disease. This sequence change replaces arginine with histidine at codon 417 of the KCNT1 protein (p.Arg417His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280778 SCV001468103 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270512 SCV002554746 uncertain significance Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270513 SCV002554748 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 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.