Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523771 | SCV000621869 | likely pathogenic | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | The T138K variant in the SOX9 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T138K variant is not observed in large population cohorts (Lek et al., 2016). The T138K variant is a semi-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 T138K as a likely pathogenic variant. |