Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214599 | SCV001386285 | pathogenic | Glycogen storage disease, type V | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp511Thrfs*28) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with PYGM-related conditons (PMID: 7951211, 25045239). ClinVar contains an entry for this variant (Variation ID: 944242). For these reasons, this variant has been classified as Pathogenic. |