Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000408992 | SCV000486713 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-07-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001580492 | SCV001810572 | likely pathogenic | Polycystic kidney disease 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000408992 | SCV004308376 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-07-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371193). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His2572Ilefs*7) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). |