ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.247G>C (p.Gly83Arg)

dbSNP: rs946962875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760521 SCV001990202 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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; Missense variants in nearby residues reported at GeneDx in individuals with GLDC-related phenotypes
Labcorp Genetics (formerly Invitae), Labcorp RCV002544022 SCV003446021 uncertain significance Glycine encephalopathy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 83 of the GLDC protein (p.Gly83Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GLDC-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 C15"). 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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