Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669717 | SCV000794496 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669717 | SCV003272862 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-09-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554145). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This sequence change creates a premature translational stop signal (p.Val3471Serfs*40) 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). |