ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2958del (p.Arg986fs)

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
PreventionGenetics, part of Exact Sciences RCV004726215 SCV005338835 likely pathogenic KAT6B-related disorder 2024-08-31 no assertion criteria provided clinical testing The KAT6B c.2958delG variant is predicted to result in a frameshift and premature protein termination (p.Arg986Serfs*6). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in KAT6B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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.