Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242446 | SCV001415533 | pathogenic | Glycogen storage disease, type V | 2023-04-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with McArdle disease (PMID: 11168025, 29143597). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Trp388Serfs*34) 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 | RCV001242446 | SCV004207259 | pathogenic | Glycogen storage disease, type V | 2023-06-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001242446 | SCV000022559 | pathogenic | Glycogen storage disease, type V | 2001-01-01 | no assertion criteria provided | literature only |