ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1444dup (p.Asp482fs)

dbSNP: rs386833526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000049454 SCV001582267 pathogenic Glycine encephalopathy 2020-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp482Glyfs*10) in the GLDC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). This variant has been observed in individual(s) with clinical features of glycine encephalopathy (PMID: 16450403). This variant is also known as c.1443insG in the literature. ClinVar contains an entry for this variant (Variation ID: 56045). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049454 SCV000081888 probable-pathogenic Glycine encephalopathy no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV000049454 SCV002075773 pathogenic Glycine encephalopathy 2020-06-08 no assertion criteria provided clinical testing

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