Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412395 | SCV000485479 | likely pathogenic | Glycogen storage disease, type V | 2015-12-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412395 | SCV002122566 | pathogenic | Glycogen storage disease, type V | 2021-01-15 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 370224). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr84Phefs*23) 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). |
Baylor Genetics | RCV000412395 | SCV004207260 | likely pathogenic | Glycogen storage disease, type V | 2023-06-19 | criteria provided, single submitter | clinical testing |