ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.381C>G (p.Tyr127Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005111273 SCV005730145 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr127*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with G6PC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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