Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578951 | SCV000681112 | pathogenic | not provided | 2017-11-10 | criteria provided, single submitter | clinical testing | The G245X nonsense variant in the EHMT1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The G245X variant is not observed in large population cohorts (Lek et al., 2016). |