ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)

gnomAD frequency: 0.00001  dbSNP: rs751025203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670170 SCV000794996 pathogenic Glycine encephalopathy 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670170 SCV002238770 pathogenic Glycine encephalopathy 2023-06-05 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 554522). This premature translational stop signal has been observed in individual(s) with glycine encephalopathy (PMID: 27362913). This variant is present in population databases (rs751025203, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg630*) 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).
GeneDx RCV004719932 SCV005325901 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 27362913)

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