ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1459T>C (p.Trp487Arg)

dbSNP: rs1557760604
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001939319 SCV002218021 uncertain significance Glycogen storage disease type III 2022-10-17 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1441658). This variant has not been reported in the literature in individuals affected with AGL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 487 of the AGL protein (p.Trp487Arg).
3billion RCV001939319 SCV002318808 uncertain significance Glycogen storage disease type III 2022-03-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000040). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.957>=0.6, 3CNET: 0.937>=0.75). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV001939319 SCV004049964 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter 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.