Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760439 | SCV000890322 | pathogenic | not provided | 2018-12-03 | criteria provided, single submitter | clinical testing | The R399X variant in the PYGL gene has been reported previously, along with a missense variant, in an individual with glycogen storage disease type VI (Beauchamp et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R399X variant is observed in 1/30,778 (0.0032%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). We interpret R399X as a pathogenic variant. |
Gene |
RCV000020492 | SCV000040940 | not provided | Glycogen storage disease, type VI | no assertion provided | literature only |