Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415042 | SCV000492862 | pathogenic | Polycystic kidney disease; Hypertensive disorder | 2015-06-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002473003 | SCV002770380 | pathogenic | not provided | 2022-06-29 | 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31740684, 29633482) |
Preventiongenetics, |
RCV003409581 | SCV004109647 | pathogenic | PKD1-related condition | 2023-05-27 | criteria provided, single submitter | clinical testing | The PKD1 c.3520C>T variant is predicted to result in premature protein termination (p.Gln1174*). This variant has been reported in individuals with autosomal dominant polycystic kidney disease (Zhang et al 2018. PubMed ID: 29633482; Kim H et al 2019. PubMed ID: 31740684). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |