ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) (rs1554643360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000537902 SCV000795100 likely pathogenic Non-ketotic hyperglycinemia 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000537902 SCV000636389 pathogenic Non-ketotic hyperglycinemia 2017-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg843*) in the GLDC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another GLDC variant in an individual affected with glycine encephalopathy, also known as non-ketotic hyperglycinemia (PMID: 26179960). 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.

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