ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)

gnomAD frequency: 0.00006  dbSNP: rs756205397
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 RCV000779138 SCV000953926 pathogenic Glycogen storage disease, type VI 2023-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln823*) in the PYGL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the PYGL protein. This variant is present in population databases (rs756205397, gnomAD 0.09%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 22899091; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 632215). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.