ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) (rs191295403)

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 RCV000492943 SCV000582684 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing The R123X variant in the PMM2 gene has been reported previously in a couple of patients with biochemically confirmed CDG-1a who also harbored another PMM2 variant (Briones et al., 2002; Quelhas et al., 2007). The R123X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R123X 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.