ClinVar Miner

Submissions for variant NM_001112741.2(KCNC1):c.108del (p.Trp36fs) (rs1590088831)

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
Invitae RCV000815376 SCV000955826 likely pathogenic Epilepsy, progressive myoclonic 7 2018-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp36Cysfs*33) in the KCNC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNC1-related disease. This variant disrupts a region of the protein in which other variant(s) (p.Thr231Ala, p.Arg320His, p.Arg339*) have been observed in affected individuals (PMID: 25401298, 28380698, 28145425, Invitae). This suggests that this may be a clinically significant region of the KCNC1 protein. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNC1 cause disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.