Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002248738 | SCV002518859 | pathogenic | Polycystic kidney disease, adult type | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000501425 | SCV000592852 | pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Gln3821X variant was not identified in the literature nor was it identified in the 1000 Genomes Project, NHLBI GO Exome Sequencing Project (ESP), the Exome Aggregation Consortium (Mar 14, 2016) databases. In addition, the variant was also not identified in the dbSNP, Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation, PKD1-LOVD, and PKD1-LOVD 3.0 databases. The p.Gln3821X variant leads to a premature stop codon at position 3821, 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. |