ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)

gnomAD frequency: 0.00007  dbSNP: rs1480850606
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
Invitae RCV000813231 SCV000953580 pathogenic Glycogen storage disease type III 2023-03-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.009%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the AGL protein in which other variant(s) (p.Tyr1510*) have been determined to be pathogenic (PMID: 8990006, 20071996, 20490926, 23430490; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 656738). This premature translational stop signal has been observed in individual(s) with clinical symptoms of glycogen storage disease type III (Invitae). This sequence change creates a premature translational stop signal (p.Gln1509*) in the AGL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the AGL protein.

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.