ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly)

gnomAD frequency: 0.00002  dbSNP: rs1245795149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038672 SCV002311219 uncertain significance Glycogen storage disease type III 2022-04-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AGL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1005 of the AGL protein (p.Cys1005Gly). 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 RCV002038672 SCV002782139 uncertain significance Glycogen storage disease type III 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002038672 SCV004050031 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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