Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381789 | SCV001580288 | pathogenic | Glycogen storage disease, type V | 2020-09-20 | criteria provided, single submitter | clinical testing | Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). For these reasons, this variant has been classified as Pathogenic. 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.Arg387Alafs*37) in the PYGM gene. It is expected to result in an absent or disrupted protein product. |