ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)

dbSNP: rs10975674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670165 SCV000794990 uncertain significance Non-ketotic hyperglycinemia 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670165 SCV002242647 pathogenic Non-ketotic hyperglycinemia 2023-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GLDC function (PMID: 28244183). 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 expected to disrupt GLDC protein function. ClinVar contains an entry for this variant (Variation ID: 554517). This missense change has been observed in individual(s) with glycine encephalopathy (PMID: 27362913). This variant is present in population databases (rs10975674, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 362 of the GLDC protein (p.Arg362Cys).

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