Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760585 | SCV000890476 | pathogenic | not provided | 2018-06-06 | criteria provided, single submitter | clinical testing | The Q1053X variant in the CACNA1A 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. The Q1053X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q1053X as a pathogenic variant. |