ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2591G>A (p.Arg864Gln)

gnomAD frequency: 0.00001  dbSNP: rs776599112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557259 SCV000626702 uncertain significance Glycogen storage disease type III 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 864 of the AGL protein (p.Arg864Gln). This variant is present in population databases (rs776599112, gnomAD 0.02%). This missense change has been observed in individual(s) with glycogen storage disease III (PMID: 24257475). ClinVar contains an entry for this variant (Variation ID: 456475). 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. 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 RCV000557259 SCV002783976 uncertain significance Glycogen storage disease type III 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000557259 SCV004050010 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000557259 SCV002091553 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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