Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211508 | SCV001383051 | pathogenic | Glycogen storage disease, type V | 2022-06-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 941671). This premature translational stop signal has been observed in individual(s) with McArdle's disease (PMID: 21802952). This variant is present in population databases (rs140102591, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Tyr733*) 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 | RCV001211508 | SCV004207285 | pathogenic | Glycogen storage disease, type V | 2023-03-23 | criteria provided, single submitter | clinical testing |