Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175037 | SCV000226463 | pathogenic | not provided | 2015-04-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002516658 | SCV003473080 | pathogenic | Glycogen storage disease, type VI | 2022-11-23 | 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: 194626). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is present in population databases (rs150547274, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr649*) 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). |
Revvity Omics, |
RCV002516658 | SCV004238607 | likely pathogenic | Glycogen storage disease, type VI | 2023-07-10 | criteria provided, single submitter | clinical testing |