ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1889G>C (p.Arg630Pro) (rs763517274)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550531 SCV000636367 likely pathogenic Non-ketotic hyperglycinemia 2017-05-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 630 of the GLDC protein (p.Arg630Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with a second GLDC variant in two individuals affected with nonketotic hyperglycinemia (PMID: 26179960, Invitae). Experimental studies have shown that this missense change reduces GLDC enzymatic activity (PMID: 26179960). In summary, this variant is a rare missense change that is absent from the population, has been reported in affected individuals and affects protein function. This evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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