Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381560 | SCV001580000 | pathogenic | Glycogen storage disease, type V | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala452Argfs*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). This variant is present in population databases (rs779562449, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with McArdle disease (PMID: 34534370). ClinVar contains an entry for this variant (Variation ID: 1069632). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001381560 | SCV004207263 | pathogenic | Glycogen storage disease, type V | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Practice for Gait Abnormalities, |
RCV003318688 | SCV004022487 | likely pathogenic | Tip-toe gait | 2023-01-10 | no assertion criteria provided | clinical testing |