Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760825 | SCV000890720 | likely pathogenic | not provided | 2018-11-02 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the PNKP gene. The Q77X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q77X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q77X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |