ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.569G>A (p.Arg190Gln) (rs796052674)

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
GeneDx RCV000187965 SCV000241568 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing p.Arg190Gln (CGA>CAA): c.569 G>A in the KCNQ3 gene. The Arg190Gln missense change in the KCNQ3 gene has not been published as a mutation, nor has it been reported as benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative as a positively charged Arginine residue is replaced by an uncharged Glutamine residue. Arg190Gln alters a highly conserved position in the intracellular region between the S2 and S3 transmembrane domains and several in-silico algorithms predict it may be damaging to the structure/function of the protein. However, other missense mutations in this region of the protein have not been published in association with epilepsy. The possibility that it is a disease-causing mutation cannot be excluded since some individuals with KCNQ3 mutations may never develop seizures due to incomplete penetrance (Bellini et al, 2011; Soldovieri et al., 2007). The variant is found in EPILEPSY panel(s).

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.