Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760505 | SCV000890396 | pathogenic | not provided | 2019-01-25 | criteria provided, single submitter | clinical testing | The W158X variant in the LRAT gene has been reported previously in the homozygous state in an individual with retinal disease (Ellingford et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W158X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W158X as a pathogenic variant. |
Centre for Genomic Medicine, |
RCV000225673 | SCV000282557 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing |