ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2351G>A (p.Arg784Gln) (rs754896169)

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 RCV000187998 SCV000241601 likely pathogenic not provided 2013-07-23 criteria provided, single submitter clinical testing p.Arg784Gln (CGA>CAA): c.2351 G>A in exon 15 of the KCNQ3 gene (NM_004519.2) The Arg784Gln missense change has not been published as a mutation, nor has it been reported as a 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. Arg784Gln is a non-conservative amino acid substitution as a positively charged Arginine residue is replaced with an uncharged Glutamine residue. The variant occurs at a position that is conserved through placental mammals, and multiple in silico algorithms predict that Arg784Gln is damaging to the structure/function of the KCNQ3 protein. Therefore, based on the currently available information, Arg784Gln is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI 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.