ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs)

dbSNP: rs1064794038
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 RCV000484111 SCV000567647 pathogenic not provided 2015-08-05 criteria provided, single submitter clinical testing The c.536_537dupGA duplication in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.536_537dupGA variant causes a frameshift starting with codon Lysine 180 changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Lys180GlufsX23. This duplication is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.536_537dupGA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.536_537dupGA as a pathogenic 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.