Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224752 | SCV001396972 | pathogenic | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2023-06-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 952612). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr112*) 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). |
Baylor Genetics | RCV003462766 | SCV004198672 | likely pathogenic | Glycogen storage disease, type IV | 2023-09-26 | criteria provided, single submitter | clinical testing |