ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.714_735del (p.Thr239fs)

dbSNP: rs1057519487
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
Genetics and Molecular Pathology, SA Pathology RCV000416543 SCV000494272 pathogenic Axenfeld-Rieger syndrome type 1 2015-05-11 no assertion criteria provided clinical testing Frame-shift introducing premature terminating codon (PTC) effecting functional haploinufficiency; clinical significance consistent with PITX2 PTC variants found upstream and down stream of this position - each regarded as pathogenic in published literature.

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.