ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2714T>G (p.Val905Gly) (rs188269735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792883 SCV000932209 pathogenic Non-ketotic hyperglycinemia 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 905 of the GLDC protein (p.Val905Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs188269735, ExAC 0.04%). This variant has been observed in combination with other GLDC variants in individuals affected with non-ketotic hypoglycemia; in at least one case, it was found on the opposite chromosome (in trans) from a pathogenic variant (PMID: 16450403, 26179960, 28244183). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this missense change results in a protein with very low activity (PMID: 28244183). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092997 SCV001249761 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing

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