ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.410G>A (p.Arg137Gln)

gnomAD frequency: 0.00006  dbSNP: rs770394329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220895 SCV001392908 uncertain significance Sengers syndrome; Cataract 38 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 137 of the AGK protein (p.Arg137Gln). This variant is present in population databases (rs770394329, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AGK-related conditions. ClinVar contains an entry for this variant (Variation ID: 949435). 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: "Benign"; Align-GVGD: "Class C35"). 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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