ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.922A>G (p.Lys308Glu)

dbSNP: rs2101113540
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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 RCV001937070 SCV002224389 uncertain significance Glycogen storage disease type III 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 308 of the AGL protein (p.Lys308Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV001937070 SCV002816350 uncertain significance Glycogen storage disease type III 2021-10-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001937070 SCV004049935 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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