ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1388T>A (p.Met463Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346877 SCV001541112 uncertain significance Glycogen storage disease type III 2020-08-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 463 of the AGL protein (p.Met463Lys). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is present in population databases (rs775358277, ExAC 0.003%). This variant has not been reported in the literature in individuals with AGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
GeneDx RCV001664843 SCV001873928 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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