ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) (rs1057520708)

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 RCV000426961 SCV000517039 pathogenic not provided 2015-05-20 criteria provided, single submitter clinical testing The Q53X variant in the PMM2 gene has not been reported previously as a pathogenic variant noras a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The Q53X variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretQ53X as a pathogenic variant.

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.