ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) (rs121964977)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000012767 SCV000588374 pathogenic Non-ketotic hyperglycinemia 2017-06-18 criteria provided, single submitter clinical testing
Invitae RCV000012767 SCV001394644 pathogenic Non-ketotic hyperglycinemia 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 802 of the GLDC protein (p.Ala802Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in many individuals affected with nonketotic hyperglycinemia (PMID: 15236413, 27362913). ClinVar contains an entry for this variant (Variation ID: 11987). This variant has been reported to affect GLDC protein function (PMID: 15236413). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012767 SCV000033002 pathogenic Non-ketotic hyperglycinemia 2004-07-01 no assertion criteria provided literature only

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.