Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521107 | SCV000621899 | likely pathogenic | not provided | 2017-10-30 | criteria provided, single submitter | clinical testing | The D2087G variant in the DYNC1H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D2087G variant is not observed in large population cohorts (Lek et al., 2016). The D2087G variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D2087G as a likely pathogenic variant |