ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.28del (p.Leu10fs)

dbSNP: rs386833574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049501 SCV000795952 likely pathogenic Glycine encephalopathy 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000049501 SCV003441364 pathogenic Glycine encephalopathy 2022-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with glycine encephalopathy (PMID: 16601880). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu10Cysfs*81) 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).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049501 SCV000081936 probable-pathogenic Glycine encephalopathy no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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