Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760705 | SCV000890597 | pathogenic | not provided | 2018-08-20 | criteria provided, single submitter | clinical testing | The S1514X nonsense variant in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S1514X variant is not observed in large population cohorts (Lek et al., 2016). |