Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489716 | SCV000577330 | uncertain significance | not provided | 2017-04-04 | criteria provided, single submitter | clinical testing | The D660N variant in the CDHR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D660N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D660N 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D660N as a variant of uncertain significance. |