ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1538C>T (p.Pro513Leu) (rs768520561)

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 RCV000187978 SCV000241581 uncertain significance not provided 2013-02-05 criteria provided, single submitter clinical testing p.Pro513Leu (CCC>CTC): c.1538 C>T in exon 11 of the KCNQ3 gene (NM_004519.2) The Pro513Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Pro513Leu in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Although both Proline and Leucine are uncharged, non-polar amino acids, the loss of a bulky Proline residue may alter the secondary structure of the protein. Pro513Leu alters a position in the C-terminal region of the protein that is conserved through mammals but is not conserved in distant species through evolution, and missense mutations have not been reported in this region of the protein in association with epilepsy. Multiple in silico algorithms predict Pro513Leu may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Pro513Leu is a disease-causing mutation or a rare benign variant. 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.