ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter)

dbSNP: rs147951756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783380 SCV002024843 pathogenic Glycine encephalopathy 2019-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783380 SCV002243131 pathogenic Glycine encephalopathy 2021-04-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with GLDC-related conditions (PMID: 27362913). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr725*) 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).

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