ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) (rs199562225)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490462 SCV000267454 likely pathogenic Congenital disorder of glycosylation, type Ia 2016-03-18 criteria provided, single submitter reference population
Integrated Genetics/Laboratory Corporation of America RCV000490462 SCV000920015 pathogenic Congenital disorder of glycosylation, type Ia 2018-05-18 criteria provided, single submitter clinical testing Variant summary: PMM2 c.580C>T (p.Arg194X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was found in the general population at a frequency of 2.4e-05, which is lower than expected for a pathogenic variant in PMM2 causing Congenital Disorder of Glycosylation Type 1a (2.4e-05 vs 0.0056), suggesting that it is not a common polymorphism. The c.580C>T variant has been reported in the literature in individuals with biochemically confirmed Congenital Disorder of Glycosylation Type 1a. These data indicate that the variant is likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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.