ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1720del (p.Glu574fs) (rs1131691382)

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 RCV000494529 SCV000582010 uncertain significance not specified 2017-11-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The c.1720delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1720delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1720delG variant causes a frameshift starting with codon Glutamic acid 574, changes this amino acid to a Serine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Glu574SerfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, only missense variants and no frameshift variants in nearby residues have been reported in the Human Gene Mutation Database in association with KCNT1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.