ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2186del (p.Ala729fs) (rs386833543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049471 SCV000636375 pathogenic Non-ketotic hyperglycinemia 2016-12-02 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 18 of the GLDC mRNA (c.2186delC), causing a frameshift at codon 729. This creates a premature translational stop signal (p.Ala729Glufs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic. This particular variant has been reported as compound heterozygous with another pathogenic variant in one individual affected with glycine encephalopathy (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049471 SCV000081905 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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