Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788822 | SCV000928078 | likely pathogenic | not provided | 2018-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788822 | SCV003924929 | pathogenic | not provided | 2022-11-14 | 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: 35022528, 29338003, 33639313, 30333007) |
Prevention |
RCV003892704 | SCV004711841 | pathogenic | PKD1-related condition | 2023-12-07 | criteria provided, single submitter | clinical testing | The PKD1 c.4551C>A variant is predicted to result in premature protein termination (p.Tyr1517*). This variant has been reported in individuals with polycystic kidney disease (Solazzo et al 2018. PubMed ID: 29338003; He et al 2018. PubMed ID: 30333007). 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. |
Laboratory of Gastroenterology and Hepatology, |
RCV001844846 | SCV001876905 | pathogenic | Autosomal dominant polycystic kidney disease | 2021-09-01 | no assertion criteria provided | research |