ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2607C>A (p.Pro869=) (rs386833565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049493 SCV000821037 pathogenic Non-ketotic hyperglycinemia 2019-12-31 criteria provided, single submitter clinical testing This sequence change affects codon 869 of the GLDC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GLDC protein. This variant is present in population databases (rs386833565, ExAC 0.01%). This variant has been reported to segregate with glycine encephalopathy in one family and to be homozygous in an unrelated individual with mild glycine encephalopathy (PMID: 15851735). ClinVar contains an entry for this variant (Variation ID: 56084). Experimental studies have shown that this silent change results in altered splicing leading to low GLDC transcript expression (PMID: 15851735). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049493 SCV000081927 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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