Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521021 | SCV000618444 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | The K2146Q variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K2146Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K2146Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K2146Q as a likely pathogenic variant. |