ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val)

gnomAD frequency: 0.00001  dbSNP: rs747050726
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000636297 SCV000757736 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2017-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNQ2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant is present in population databases (rs747050726, ExAC 0.003%). This sequence change replaces isoleucine with valine at codon 238 of the KCNQ2 protein (p.Ile238Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Channelopathy-Associated Epilepsy Research Center RCV003315358 SCV004015075 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.