ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) (rs794727741)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179033 SCV000231222 uncertain significance not provided 2014-06-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000193491 SCV000247665 likely pathogenic Seizures 2014-12-05 criteria provided, single submitter clinical testing
Invitae RCV001235310 SCV001407989 uncertain significance Early infantile epileptic encephalopathy 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 234 of the KCNQ2 protein (p.Thr234Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of epilepsy (PMID: 29720203, 29056246). ClinVar contains an entry for this variant (Variation ID: 197892). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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.