ClinVar Miner

Submissions for variant NM_198503.5(KCNT2):c.11T>G (p.Leu4Trp)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004577155 SCV005061030 uncertain significance Developmental and epileptic encephalopathy, 57 criteria provided, single submitter clinical testing The missense c.11T>G (p.Leu4Trp) variant in KCNT2 gene has not been previously reported as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu4Trp variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid change p.Leu4Trp in KCNT2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 4 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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.