ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.595C>T (p.Gln199Ter)

gnomAD frequency: 0.00001  dbSNP: rs780694207
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069267 SCV001234422 pathogenic Glycogen storage disease type III 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln199*) in the AGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). This variant is present in population databases (rs780694207, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 26984562). ClinVar contains an entry for this variant (Variation ID: 862529). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001069267 SCV002809941 pathogenic Glycogen storage disease type III 2022-03-02 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001069267 SCV003932179 pathogenic Glycogen storage disease type III 2023-03-06 criteria provided, single submitter clinical testing PVS1, PM2, PM3
Genome-Nilou Lab RCV001069267 SCV004049925 pathogenic Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001069267 SCV004192651 pathogenic Glycogen storage disease type III 2023-03-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480948 SCV004225772 pathogenic not provided 2022-05-18 criteria provided, single submitter clinical testing PM2, PM3, PVS1
Natera, Inc. RCV001069267 SCV002091450 pathogenic Glycogen storage disease type III 2021-04-02 no assertion criteria provided clinical testing

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.