Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000169673 | SCV000221208 | pathogenic | Glycogen storage disease, type VI | 2013-11-10 | criteria provided, single submitter | clinical testing | The Ser15ArgfsX21 variant in PYGL has not been previously reported in individuals with glycogen storage disease 6 or in large population studies. However, this novel frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 15 and lead to a premature termination codon 21 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. This variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) based upon the established role of loss-of-function variants in glycogen storage disease 6. |
Gene |
RCV002460948 | SCV002757013 | pathogenic | not provided | 2022-11-08 | 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 (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |