Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411559 | SCV000485507 | likely pathogenic | Glycogen storage disease, type V | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411559 | SCV004331306 | pathogenic | Glycogen storage disease, type V | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp68*) 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: 370250). For these reasons, this variant has been classified as Pathogenic. |