ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.300_302CCT[1] (p.Leu102del) (rs1064795435)

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 RCV000486606 SCV000571237 likely pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing An apparently de novo c.303_305delCCT variant that is likely pathogenic has been identified in the KCNQ2 gene. The c.303_305delCCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant 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 c.303_305delCCT variant results in an in-frame deletion of a single Leucine residue, denoted p.Leu102del. The c.303_305delCCT variant deletes a residue that is conserved across species, and other in-frame variants have been reported in the Human Gene Mutation Database in association with KCNQ2-related disorders (Stenson et al., 2014). Therefore, we now interpret c.303_305delCCT as a likely pathogenic variant; however, the possibility that it is benign cannot be excluded.

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.