ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1570G>C (p.Val524Leu) (rs751362463)

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
Counsyl RCV000673924 SCV000799180 uncertain significance Non-ketotic hyperglycinemia 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000673924 SCV001398548 uncertain significance Non-ketotic hyperglycinemia 2019-07-29 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 524 of the GLDC protein (p.Val524Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs751362463, ExAC 0.009%). This variant has been observed in an individual affected with spina bifida (PMID: 22171071). ClinVar contains an entry for this variant (Variation ID: 557746). This variant has been reported to affect GLDC protein function (PMID: 22171071). 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.

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.