Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381687 | SCV001580180 | pathogenic | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2020-06-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GBE1 are known to be pathogenic (PMID: 15452297, 20058079). This variant has not been reported in the literature in individuals with GBE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln270*) in the GBE1 gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV001780306 | SCV002024209 | pathogenic | not provided | 2020-06-17 | criteria provided, single submitter | clinical testing |