Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383627 | SCV001582846 | pathogenic | Glycogen storage disease, type V | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val503Serfs*36) in the PYGM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071212). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001383627 | SCV004238609 | likely pathogenic | Glycogen storage disease, type V | 2023-08-11 | criteria provided, single submitter | clinical testing |