ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)

gnomAD frequency: 0.00002  dbSNP: rs768133891
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 RCV001248270 SCV001421742 uncertain significance Glycogen storage disease type III 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1097 of the AGL protein (p.Arg1097Cys). This variant is present in population databases (rs768133891, 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: 972279). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV001248270 SCV002794157 uncertain significance Glycogen storage disease type III 2021-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570374 SCV003759227 uncertain significance Inborn genetic diseases 2022-09-15 criteria provided, single submitter clinical testing The c.3289C>T (p.R1097C) alteration is located in exon 25 (coding exon 24) of the AGL gene. This alteration results from a C to T substitution at nucleotide position 3289, causing the arginine (R) at amino acid position 1097 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001248270 SCV004050042 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001248270 SCV002094527 uncertain significance Glycogen storage disease type III 2020-02-13 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.