ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)

gnomAD frequency: 0.00003  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
Ege University Pediatric Genetics, Ege University RCV000790395 SCV000925633 uncertain significance Glycogen storage disease IIIa 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV001873203 SCV002299246 uncertain significance Glycogen storage disease type III 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1226 of the AGL protein (p.Ile1226Thr). This variant is present in population databases (rs749118487, gnomAD 0.01%). This missense change has been observed in individual(s) with glycogen storage disease (PMID: 31319225). ClinVar contains an entry for this variant (Variation ID: 635319). 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. 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.
Genome-Nilou Lab RCV001873203 SCV004050060 uncertain significance Glycogen storage disease type III 2023-04-11 criteria provided, single submitter clinical testing

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