Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414530 | SCV000491116 | likely pathogenic | not provided | 2016-02-19 | criteria provided, single submitter | clinical testing | The Y420C variant in the PKD1 gene has been reported previously as a pathogenic variant in an individual with clinical polycystic kidney disease. However, that individual also had a second pathogenic variant in the PKD1 gene and phase was not confirmed (Garcia-Gonzalez et al., 2007) . The Y420C variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y420C 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. Therefore, we interpret Y420C as a likely pathogenic variant. |