ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1145G>A (p.Cys382Tyr) (rs759133707)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638285 SCV000759779 pathogenic Non-ketotic hyperglycinemia 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 382 of the GLDC protein (p.Cys382Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs759133707, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from pathogenic or likely pathogenic variants in individuals affected with glycine encephalopathy, including an individual with biochemical findings that are highly specific for the condition (PMID: 26179960, 27362913). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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.