ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) (rs775498547)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673314 SCV000798502 likely pathogenic Glycogen storage disease type III 2018-03-12 criteria provided, single submitter clinical testing
Invitae RCV000673314 SCV000955607 pathogenic Glycogen storage disease type III 2018-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1205*) in the AGL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775498547, ExAC 0.009%). This variant has been observed to be homozygous in an individual affected with glycogen storage disease (PMID: 19834502). Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000675340 SCV000801006 likely pathogenic not provided 2017-03-23 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.