ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.511dup (p.Thr171fs) (rs1057516323)

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
Counsyl RCV000411679 SCV000485470 likely pathogenic Congenital disorder of glycosylation, type Ia 2015-12-15 criteria provided, single submitter clinical testing
Invitae RCV000411679 SCV000955847 pathogenic Congenital disorder of glycosylation, type Ia 2018-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr171Asnfs*11) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with mild clinical features of PMM2-congenital disorders of glycosylation (PMID: 25355454). ClinVar contains an entry for this variant (Variation ID: 370217). Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). For these reasons, this variant has been 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.