Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cavalleri Lab, |
RCV001095592 | SCV001251227 | pathogenic | Polycystic kidney disease, adult type | 2020-02-05 | criteria provided, single submitter | research | PVS1, PM2, PP4 |
Molecular Genetics Department, |
RCV001095592 | SCV004801809 | likely pathogenic | Polycystic kidney disease, adult type | criteria provided, single submitter | clinical testing | A previously undescribed nucleotide variant creates a premature translation stop signal p.Glu2635Ter in the PKD1 gene. The variant was observed in heterozygous state in an individual affected with familial polycystic kidney disease. Loss-of-function variants are reported in patients with Polycystic kidney disease 1, 173900. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic. |