Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493820 | SCV000582481 | pathogenic | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | The L1546X nonsense variant in the ABCA4 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has not been reported previously to our knowledge. A nearby nonsense variant (K1547X) has been reported in the Human Gene Mutation Database in association with Stargardt disease (Stenson et al., 2014). Therefore, we interpret L1546X as a pathogenic variant. |