ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)

dbSNP: rs749118487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330909 SCV001522763 uncertain significance Glycogen storage disease type III 2019-12-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001330909 SCV003466557 uncertain significance Glycogen storage disease type III 2022-08-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1226 of the AGL protein (p.Ile1226Arg). This variant is present in population databases (rs749118487, gnomAD 0.003%). 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: 1029581). 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 disruptive. 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.
Genome-Nilou Lab RCV001330909 SCV004050059 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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