Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001095548 | SCV001251178 | pathogenic | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PVS1, PM2, PP4 |
Department of Pathology and Laboratory Medicine, |
RCV001292119 | SCV001480976 | pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Gln2123* variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database, or PKD1-LOVD databases. 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.Gln2123* variant leads to a premature stop codon at position 2123, 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. |