ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.36_60del (p.Gly13fs) (rs772417096)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000188005 SCV000257979 uncertain significance not specified 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000188005 SCV000241608 uncertain significance not specified 2014-03-11 criteria provided, single submitter clinical testing The c.36_60del25 variant in the KCNQ3 gene causes a frameshift starting with codon Glycine 13, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 73 of the new reading frame, denoted p.Gly13GlufsX73. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, to our knowledge, all reported KCNQ3 mutations have been missense substitutions. The c.36_60del25 variant may be benign; however, the possibility that it is a disease-causing mutation cannot be excluded. The variant is found in KCNQ3 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.