ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.69C>T (p.Gly23=)

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 RCV003753044 SCV004523222 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-04 criteria provided, single submitter clinical testing This sequence change affects codon 23 of the KCNQ2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNQ2 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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.