Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| NHS Central & South Genomic Laboratory Hub | RCV006650422 | SCV007542571 | pathogenic | Glycogen storage disease | 2026-04-22 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV001585707 | SCV007134720 | likely pathogenic | not provided | 2025-12-10 | criteria provided, single submitter | clinical testing | PP1, PM2_supporting, PVS1 |
| Gene |
RCV001585707 | SCV001818320 | pathogenic | not provided | 2025-09-10 | criteria provided, single submitter | clinical testing | Nonsense 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; This variant is associated with the following publications: (PMID: 25266922) |
| Labcorp Genetics |
RCV000779139 | SCV000943489 | pathogenic | Glycogen storage disease, type VI | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln577*) in the PYGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGL are known to be pathogenic (PMID: 9536091, 21646031). This variant is present in population databases (rs149096315, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type VI (PMID: 25266922). ClinVar contains an entry for this variant (Variation ID: 632216). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |