ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu)

gnomAD frequency: 0.00001  dbSNP: rs772026557
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692939 SCV000820790 uncertain significance Glycogen storage disease type III 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1399 of the AGL protein (p.Lys1399Glu). This variant is present in population databases (rs772026557, gnomAD 0.007%). 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: 571719). 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 not 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 RCV003233819 SCV003930707 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000692939 SCV004050085 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000692939 SCV002094573 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.