Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760938 | SCV000890834 | likely pathogenic | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | The Q517X variant in the RP1L1 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 through protein truncation, as the last 1,884 amino acids are lost. The Q517X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q517X as a likely pathogenic variant. |