ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) (rs1406713104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664682 SCV000788683 likely pathogenic Non-ketotic hyperglycinemia 2018-02-16 criteria provided, single submitter clinical testing
Invitae RCV000664682 SCV001235444 pathogenic Non-ketotic hyperglycinemia 2019-02-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 994 of the GLDC protein (p.Gly994Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nonketotic hyperglycinemia (PMID: 27362913). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550058). This variant has been reported to affect GLDC protein function (PMID: 28244183). For these reasons, this variant has been classified as Pathogenic.

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