ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) (rs761370843)

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 RCV000480226 SCV000573940 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing The c.3312_3313delCA variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3312_3313delCA variant causes a frameshift starting with codon Histidine 1104, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.H1104QfsX13. This frameshift variant replaces the typical last 2 amino acid residues in the KANSL1 protein with 12 different amino acid residues. This change is expected to alter the normal structure and function of the resultant protein. The c.3312_3313delCA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3312_3313delCA 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.