Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002002448 | SCV002233902 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-12-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PKHD1-related conditions. This sequence change creates a premature translational stop signal (p.Gly2035Glufs*12) 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). |
Myriad Genetics, |
RCV002307808 | SCV002603506 | likely pathogenic | Polycystic kidney disease 4 | 2022-02-10 | criteria provided, single submitter | clinical testing | NM_138694.3(PKHD1):c.6104delG(G2035Efs*12) is expected to be pathogenic in the context of autosomal recessive polycystic kidney disease, PKHD1-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PKHD1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |
Fulgent Genetics, |
RCV002307808 | SCV002800952 | likely pathogenic | Polycystic kidney disease 4 | 2022-05-04 | criteria provided, single submitter | clinical testing |