Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498250 | SCV000589607 | pathogenic | not provided | 2017-06-19 | criteria provided, single submitter | clinical testing | The Q410X nonsense variant has been reported previously as a mosaic variant in association with neurofibromatosis type 2 (Kluwe et al., 2003; Evans et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic. |