ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)

gnomAD frequency: 0.00001  dbSNP: rs373618804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670154 SCV000794978 likely pathogenic Glycine encephalopathy 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670154 SCV003271057 pathogenic Glycine encephalopathy 2023-09-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change creates a premature translational stop signal (p.Lys773*) 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 is present in population databases (rs373618804, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with glycine encephalopathy (PMID: 27362913). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554507). For these reasons, this variant has been classified as Pathogenic.

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