rs569380424

Description

The R4214C variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R4214C variant is observed in 1/4678 (0.02%) alleles from individuals of Finnish European background in the ExAC dataset (Lek et al., 2016). The R4214C 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 not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R4214C as a variant of uncertain significance.