ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216319 SCV001388110 pathogenic Non-ketotic hyperglycinemia 2019-04-06 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 132 of the GLDC protein (p.Ser132Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs386833576, ExAC 0.001%). This variant has been observed in individuals with glycine encephalopathy (PMID: 26179960). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect GLDC protein function (PMID: 26179960). For these reasons, this variant has been classified as Pathogenic.

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