ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)

dbSNP: rs797045638
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
Genetic Services Laboratory, University of Chicago RCV000194723 SCV000247666 likely pathogenic Developmental and epileptic encephalopathy, 7 2017-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317691 SCV000851780 likely pathogenic Inborn genetic diseases 2018-08-16 criteria provided, single submitter clinical testing The p.A235V variant (also known as c.704C>T), located in coding exon 5 of the KCNQ2 gene, results from a C to T substitution at nucleotide position 704. The alanine at codon 235 is replaced by valine, an amino acid with similar properties. This variant has been determined to be the result of a de novo mutation or germline mosaicism in two unrelated families with an isolated case of KCNQ2-related epileptic encephalopathy (Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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.