ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter)

dbSNP: rs2053428286
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001225980 SCV001398274 pathogenic Glycogen storage disease IXc 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln249*) in the PHKG2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PHKG2 are known to be pathogenic (PMID: 8896567, 17689125, 21646031). This variant has not been reported in the literature in individuals with PHKG2-related conditions. This variant is not present in population databases (ExAC no frequency).

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.