ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4076G>A (p.Arg1359His) (rs201533636)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631158 SCV000752158 uncertain significance Glycogen storage disease type III 2019-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1359 of the AGL protein (p.Arg1359His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs201533636, ExAC 0.02%). This variant has not been reported in the literature in individuals with AGL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001574448 SCV001801268 uncertain significance not provided 2019-11-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000631158 SCV001459027 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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