ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)

gnomAD frequency: 0.00001  dbSNP: rs777393482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631164 SCV000752164 uncertain significance Glycogen storage disease type III 2022-01-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 526 of the AGL protein (p.Asp526Gly). This variant is present in population databases (rs777393482, gnomAD 0.002%). This missense change has been observed in individual(s) with glycogen storage disease type III (PMID: 27106217). ClinVar contains an entry for this variant (Variation ID: 526603). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Counsyl RCV000631164 SCV000788835 uncertain significance Glycogen storage disease type III 2017-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000631164 SCV002055103 uncertain significance Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631164 SCV002091502 uncertain significance Glycogen storage disease type III 2020-09-01 no assertion criteria provided clinical testing

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