ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2891dup (p.Tyr964Ter) (rs386833572)

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
Integrated Genetics/Laboratory Corporation of America RCV000049583 SCV000695759 likely pathogenic Non-ketotic hyperglycinemia 2016-07-22 criteria provided, single submitter clinical testing Variant summary: The GLDC c.2891dupA (p.Tyr964X) variant results in a premature termination codon, predicted to cause a truncated or absent GLDC protein due to nonsense mediated decay (NMD), which are commonly known mechanisms for disease. If this variant escapes NMD, it is predicted to truncate Pyridoxal phosphate-dependent transferase domain. A truncation variant downstream of this position c.2999delG has also been reported in non-ketotic hyperglycinaemia patient. This variant was found in 1/117934 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic GLDC variant (0.0026112). This variant has been found in one patient with Nonketotic Hyperglycinemia who was compound heterozygous for this variant and exon 1 deletion variant. One clinical lab has classified this variant as likely pathogenic. Taken together, this variant is classified as a Probable Disease Variant (or Likely Pathogenic).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049583 SCV000081934 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely 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.