ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2316-1G>A (rs386833554)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049482 SCV000792415 pathogenic Non-ketotic hyperglycinemia 2017-06-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734579 SCV000862731 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000049482 SCV000636382 pathogenic Non-ketotic hyperglycinemia 2018-11-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 19 of the GLDC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic. This particular variant has been reported in the homozygous or compound heterozygous state in multiple individuals affected with glycine encephalopathy/nonketotic hyperglycemia (PMID: 16601880, 27362913). ClinVar contains an entry for this variant (Variation ID: 56073). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049482 SCV000081916 probable-pathogenic Non-ketotic hyperglycinemia no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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