Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381995 | SCV001580573 | pathogenic | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2023-01-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GBE1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069996). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp493*) 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). |