ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)

dbSNP: rs2130031802
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000732 SCV002267736 likely pathogenic Glycine encephalopathy 2023-07-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1482131). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. This missense change has been observed in individual(s) with glycine encephalopathy (PMID: 27362913). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 79 of the GLDC protein (p.Leu79Pro).
GeneDx RCV004719217 SCV005325903 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing Identified with a second GLDC variant on the opposite allele (in trans) in a patient with suspected nonketotic hyperglycinemia in published literature, although clinical details were not provided (Coughlin et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27362913)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.