ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs) (rs1554778336)

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 RCV000658223 SCV000779994 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing The c.2770_2771delCCinsG variant in the KCNT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Proline 924, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Pro924ValfsX22. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2770_2771delCCinsG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2770_2771delCCinsG as a variant of uncertain significance.

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.