Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008052 | SCV001167785 | pathogenic | not provided | 2018-11-29 | criteria provided, single submitter | clinical testing | The c.7442_7445dupGATA nonsense variant in the NF1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has not been reported previously to our knowledge. The c.7442_7445dupGATA variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic. |