Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386689 | SCV001587026 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-03-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala3804Glyfs*9) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant has been observed in individual(s) with polycystic kidney disease (PMID: 16133180). This variant is not present in population databases (ExAC no frequency). |