Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244443 | SCV001417663 | pathogenic | Glycogen storage disease, type V | 2022-04-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe38Lysfs*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 not present in population databases (gnomAD no frequency). 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: 969160). For these reasons, this variant has been classified as Pathogenic. |