ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1002dup (p.Ala335fs)

dbSNP: rs386833516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000049444 SCV003440874 pathogenic Glycine encephalopathy 2022-04-08 criteria provided, single submitter clinical testing This variant is also known as c.1002_1003insT. This premature translational stop signal has been observed in individual(s) with glycine encephalopathy (PMID: 16601880). This variant is present in population databases (rs386833516, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ala335Cysfs*75) 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). ClinVar contains an entry for this variant (Variation ID: 56035). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049444 SCV000081878 probable-pathogenic Glycine encephalopathy no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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