ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2069G>T (p.Gly690Val) (rs749075109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526666 SCV000626688 uncertain significance Glycogen storage disease type III 2017-04-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 690 of the AGL protein (p.Gly690Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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