Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598836 | SCV000710766 | likely pathogenic | not provided | 2018-02-26 | criteria provided, single submitter | clinical testing | The I222X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The nonsense variant is predicted to cause loss of normal protein function through protein truncation. In summary, we consider this variant to be likely pathogenic. |