ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) (rs886041691)

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
GeneDx RCV000289855 SCV000330422 pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing The M516V pathogenic variant in the KCNT1 gene has been reported previously as a de novo pathogenic variant in an individual with Malignant Migrating Partial Seizures in Infancy (Rizzo et al., 2016). Functional studies show that the M516V variant results in increased channel function when compared to wild-type KCNT1 (Rizzo et al., 2016). The M516V variant was not observed in approximately 6,400 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 M516V pathogenic variant is a conservative amino acid substitution and occurs at a position where amino acids with similar properties to Methionine are tolerated across species. Therefore, the presence of M516V is consistent with a diagnosis of a KCNT1-related disorder
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000417014 SCV000494542 likely pathogenic Malignant migrating partial seizures of infancy 2016-11-16 criteria provided, single submitter clinical testing

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.