ClinVar

Description

The PKD2 p.Arg361* variant was identified in 8 of 2162 proband chromosomes (frequency: 0.004) from individuals or families with autosomal dominant polycystic kidney disease (Audrezet 2012, Chung 2006, Jin 2016, Robinson 2012). The variant was also identified in LOVD 3.0 (1x) and the ADPKD Mutation Database (as definitely pathogenic). The variant was not identified in dbSNP, ClinVar, or PKD1-LOVD. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Arg361* variant leads to a premature stop codon at position 361, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PKD2 gene are an established mechanism of disease in ADPKD and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.