ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)

dbSNP: rs2107114808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001960590 SCV002227847 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp107*) in the GBE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GBE1 are known to be pathogenic (PMID: 15452297, 20058079). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1454134). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471152 SCV004198703 likely pathogenic Glycogen storage disease, type IV 2023-07-07 criteria provided, single submitter clinical testing

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