ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) (rs386833524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049452 SCV000798906 likely pathogenic Non-ketotic hyperglycinemia 2018-03-28 criteria provided, single submitter clinical testing
Invitae RCV000049452 SCV001383321 pathogenic Non-ketotic hyperglycinemia 2020-03-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 461 of the GLDC protein (p.Arg461Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs386833524, ExAC 0.01%). This variant has been observed in individual(s) with glycine encephalopathy (PMID: 16601880, 26179960). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56043). 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049452 SCV000081886 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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