ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)

dbSNP: rs864321706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289055 SCV002581447 pathogenic Developmental and epileptic encephalopathy, 7 2022-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588801 SCV004297362 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 KCNQ2 protein function. ClinVar contains an entry for this variant (Variation ID: 1709240). This missense change has been observed in individual(s) with developmental and epileptic encephalopathy (PMID: 27779742, 29588952). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 284 of the KCNQ2 protein (p.Tyr284His).
Channelopathy-Associated Epilepsy Research Center RCV003315373 SCV004015092 not provided Complex neurodevelopmental disorder no assertion provided literature only

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.