ClinVar Miner

Submissions for variant NM_001372076.1(PAX9):c.670G>T (p.Glu224Ter)

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
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV004794721 SCV005401094 likely pathogenic Tooth agenesis, selective, 3 criteria provided, single submitter clinical testing The heterozygous nonsense c.670G>T, p.(Glu224*) in the PAX9 gene was identified in a tooth agenesis patient and his affected mother by exome sequencing. This variant was absent from population databases, including gnomAD, TOPMed, GenomeAsia, and our in-house database of Thai exomes. The truncated mutation in this gene was previously reported in non-syndromic tooth agenesis patients (Jiang et al. 2023, PMID:17910065). This variant was classified as likely pathogenic based on the ACMG Guidelines for variant interpretation and classification.

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.