ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) (rs386833549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671712 SCV000796717 likely pathogenic Non-ketotic hyperglycinemia 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV000671712 SCV001227323 pathogenic Non-ketotic hyperglycinemia 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 761 of the GLDC protein (p.Gly761Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs386833549, ExAC 0.1%). This variant has been observed in multiple individuals affected with glycine encephalopathy (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: 555815). This variant has been reported to affect GLDC protein function (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. For these reasons, this variant has been classified as Pathogenic.

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