ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) (rs118192200)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763453 SCV000894229 pathogenic Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000187863 SCV000241463 pathogenic not provided 2018-03-05 criteria provided, single submitter clinical testing The R207Q variant has been previously reported in an individual with myokymia due to peripheral nerve hyperexcitability, and functional studies indicate this variant alters voltage-dependent activation (Wuttke et al., 2007; Miceli et al., 2012). Additionally, a different missense substitution at the same position (R207W) has been previously reported in unrelated families with neonatal seizures (Dedek et al., 2001; Blumkin et al., 2012). The R207Q variant is not observed in large population cohorts (Lek et al., 2016). The R207Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution is predicted to be within the transmembrane segment S4 voltage sensor. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, we interpret R207Q as a pathogenic variant, and its presence is consistent with the diagnosis of a KCNQ2-related disorder in this individual.
GeneReviews RCV000678085 SCV000041646 pathogenic Early infantile epileptic encephalopathy 7 2016-03-31 no assertion criteria provided literature only Myokymia, EE (epileptic encephalopathy)
OMIM RCV000007815 SCV000028020 pathogenic Seizures, benign familial neonatal, 1, and/or myokymia 2007-11-27 no assertion criteria 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.