ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) (rs772347559)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671456 SCV000796432 uncertain significance Glycogen storage disease type III 2017-12-14 criteria provided, single submitter clinical testing
Invitae RCV000671456 SCV000823063 uncertain significance Glycogen storage disease type III 2018-02-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 908 of the AGL protein (p.Leu908Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs772347559, ExAC 0.02%). This variant has been reported in combination with another AGL variant in an individual with suspected glycogen storage disease type 1A (PMID: 22899091). 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: "Probably 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.

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