Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788852 | SCV000928120 | pathogenic | not provided | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Cavalleri Lab, |
RCV000008681 | SCV001251200 | pathogenic | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PVS1, PM1, PP4, PP5 |
Molecular Biology Laboratory, |
RCV000008681 | SCV001425160 | pathogenic | Polycystic kidney disease, adult type | 2020-02-01 | criteria provided, single submitter | research | |
Gene |
RCV000788852 | SCV002762320 | pathogenic | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | Observed in multiple unrelated individuals with autosomal dominant polycystic kidney disease in published literature (Peral et al., 1996; Peral et al., 1997; Hoefele et al., 2011; He et al., 2018); Published functional studies demonstrate a damaging effect; variant protein results in loss of heterodimerization with PKD2 and a failure to produce ion channel activity (Hanaoka et al., 2000); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 75 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25365220, 11115377, 9199561, 21115670, 17582161, 33454723, 35177841, 30333007, 8554072, 11140688) |
Fulgent Genetics, |
RCV000008681 | SCV002778807 | pathogenic | Polycystic kidney disease, adult type | 2022-04-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000788852 | SCV004229846 | pathogenic | not provided | 2023-07-31 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. In some published literature, this variant is referred to as c.12682C>T, p.Arg4228X. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 11140688) |
OMIM | RCV000008681 | SCV000028890 | pathogenic | Polycystic kidney disease, adult type | 1996-01-01 | no assertion criteria provided | literature only |