Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000294917 | SCV000330863 | pathogenic | not provided | 2016-09-27 | criteria provided, single submitter | clinical testing | The Y409X nonsense variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider Y409X to be pathogenic, and its presence consistent with a diagnosis of Birt-Hogg-Dube syndrome |