ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3230del (p.Asn1077fs)

dbSNP: rs2150858815
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 RCV002034873 SCV002107376 pathogenic not provided 2022-03-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 928 amino acids are replaced with 45 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30245513, 27133397)

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.