Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222438 | SCV001394536 | pathogenic | Glycogen storage disease, type V | 2019-06-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). This variant has not been reported in the literature in individuals with PYGM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln755Hisfs*19) in the PYGM gene. It is expected to result in an absent or disrupted protein product. |