ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) (rs386833521)

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Total submissions: 4
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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 RCV000049449 SCV000695756 likely pathogenic Non-ketotic hyperglycinemia 2016-01-29 criteria provided, single submitter clinical testing
Counsyl RCV000049449 SCV000790280 pathogenic Non-ketotic hyperglycinemia 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV000049449 SCV001579490 pathogenic Non-ketotic hyperglycinemia 2020-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg424*) in the GLDC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386833521, ExAC 0.009%). This variant has been observed to be homozygous and in combination with another GLDC variant in individuals affected with non-ketotic hyperglycemia (PMID: 26179960, 16601880). ClinVar contains an entry for this variant (Variation ID: 56040). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049449 SCV000081883 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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