ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)

gnomAD frequency: 0.00007  dbSNP: rs199660743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539311 SCV000626672 uncertain significance Glycogen storage disease type III 2022-08-06 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 494 of the AGL protein (p.Arg494Cys). This variant is present in population databases (rs199660743, 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: 456454). 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 RCV000539311 SCV002799682 uncertain significance Glycogen storage disease type III 2022-03-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000539311 SCV004049965 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000539311 SCV002091495 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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