Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169106 | SCV000220305 | likely pathogenic | Glycogen storage disease, type V | 2014-05-13 | criteria provided, single submitter | literature only | |
Gene |
RCV001008110 | SCV001167860 | pathogenic | not provided | 2020-01-07 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18067156, 19670320, 15979037, 29926259, 29143597, 21802952, 17404776, 16786513, 32528171) |
Invitae | RCV000169106 | SCV002228472 | pathogenic | Glycogen storage disease, type V | 2023-09-19 | 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: 188778). This variant is also known as T25fs. This premature translational stop signal has been observed in individual(s) with PYGM-related conditions (PMID: 15979037). This variant is present in population databases (rs755117847, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu27Alafs*50) 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 | RCV000169106 | SCV004207280 | pathogenic | Glycogen storage disease, type V | 2023-04-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000169106 | SCV004238116 | pathogenic | Glycogen storage disease, type V | 2023-04-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000169106 | SCV002092354 | pathogenic | Glycogen storage disease, type V | 2020-09-01 | no assertion criteria provided | clinical testing |