ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1054del (p.Thr352fs) (rs386833518)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049446 SCV000486648 likely pathogenic Non-ketotic hyperglycinemia 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV000049446 SCV000830289 pathogenic Non-ketotic hyperglycinemia 2018-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr352Glnfs*65) in the GLDC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386833518, ExAC 0.002%). This variant has been identified as homozygous in an individual affected with non-ketotic hyperglycinaemia (PMID: 17361008). It has also been reported as heterozygous in an individual with non-ketotic hyperglycinaemia, with co-occurring allele unknown (PMID: 12126939). ClinVar contains an entry for this variant (Variation ID: 56037). Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049446 SCV000081880 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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