ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs)

dbSNP: rs1057516049
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000408607 SCV000484451 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2015-11-30 criteria provided, single submitter clinical testing This deletion of four nucleotides results in frameshift and premature truncation of the protein 12 residues downstream, NP_006757.2(KAT6A): p.(Glu1419Trpfs*12). This is a novel mutation, not present in disease or population databases. It occurs in the same domain as previously reported disease-causing mutations in this gene, and was found to be de novo in this patient.

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.