Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002595155 | SCV003492589 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-08-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln472*) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2177256). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. |