ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1226T>G (p.Leu409Arg)

gnomAD frequency: 0.00022  dbSNP: rs200459772
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524757 SCV000626668 uncertain significance Glycogen storage disease type III 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 409 of the AGL protein (p.Leu409Arg). This variant is present in population databases (rs200459772, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 456451). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AGL protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001755796 SCV001986582 uncertain significance not provided 2020-06-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000524757 SCV002055096 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001755796 SCV004227871 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing PP3
Natera, Inc. RCV000524757 SCV002091480 uncertain significance Glycogen storage disease type III 2019-10-28 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.