Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626720 | SCV000747423 | pathogenic | Polycystic liver disease 1; Polycystic kidney disease | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000499751 | SCV000592745 | pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Gln739X variant was not identified in the literature nor was it identified in dbSNP, Clinvitae, ClinVar, GeneInsight-COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD, and PKD1-LOVD 3.0. The p.Gln739X variant leads to a premature stop codon at position 739, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PKD1 gene are an established mechanism of disease in autosomal dominant polycystic kidney disease 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. |