Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478693 | SCV000572849 | uncertain significance | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | The G1646D variant in the CDH3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1646D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G1646D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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 G1646D as a variant of uncertain significance. |
Natera, |
RCV001272902 | SCV001455326 | uncertain significance | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |