ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)

dbSNP: rs121917913
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
Invitae RCV001048734 SCV001212753 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-12-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1422 of the SCN1A protein (p.Tyr1422Cys). This variant is present in population databases (rs121917913, gnomAD 0.0009%). This missense change has been observed in individual(s) with SCN1A-related conditions (PMID: 17054684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68540). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059414 SCV000090938 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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.