ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu)

dbSNP: rs761064507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774283 SCV002002097 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540469 SCV003295073 uncertain significance Glycine encephalopathy 2021-12-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 518 of the GLDC protein (p.Pro518Leu). This variant is present in population databases (rs761064507, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GLDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1312829). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GLDC protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV005040361 SCV005679325 uncertain significance Glycine encephalopathy 1 2024-01-09 criteria provided, single submitter clinical testing

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