Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001961889 | SCV002128831 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-08-03 | criteria provided, single submitter | clinical testing | 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.Asn3445Metfs*66) 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 not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. |