ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.

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