Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578759 | SCV000681143 | likely pathogenic | not provided | 2017-12-08 | criteria provided, single submitter | clinical testing | The Y347X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Although this variant has not been reported previously to our knowledge, we consider it to be likely pathogenic. |