Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001567724 | SCV001791465 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31740684, 18837007, 35177841, 32970388, 24374109) |
Department of Pathology and Laboratory Medicine, |
RCV000502459 | SCV000592812 | pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Gln2699X variant was identified in 1 of 50 proband chromosomes (frequency: 0.02) from individuals or families with ADPKD (Tan_2014), however control chromosomes were not evaluated in this study, thus the prevalence of this variant in the general population could not be determined. The variant was not identified in the 1000 Genomes Project, the Exome Variant Server project, or in the Exome Aggregation Consortium. The variant was identified 1x as definitely pathogenic in the PKDB Mutation Database and 1x in PKD1-LOVD3.0 with no classification given. The p.Gln2699X variant leads to a premature stop codon at position 2699, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants in the PKD1 gene are an established mechanism of disease in ADPKD. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. |