Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521195 | SCV000621046 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | The K3195N variant in the PKHD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K3195N variant is not observed in large population cohorts (Lek et al., 2016). The K3195N 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 not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret K3195N as a variant of uncertain significance. |
Natera, |
RCV001829523 | SCV002077943 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-05-17 | no assertion criteria provided | clinical testing |