ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2050G>A (p.Gly684Ser)

dbSNP: rs577281854
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 RCV000187930 SCV000241532 uncertain significance not provided 2013-11-26 criteria provided, single submitter clinical testing The G684S 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. The identification of G684S suggests that G684S may be a benign variant not associated with the child's phenotype; however, the possibility that it is a disease-associated mutation cannot be excluded since some individuals with KCNQ2 mutations never develop seizures due to incomplete penetrance. 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.