Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730556 | SCV000858302 | pathogenic | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507294 | SCV002808742 | likely pathogenic | Polycystic kidney disease 4 | 2021-07-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002507294 | SCV004204536 | likely pathogenic | Polycystic kidney disease 4 | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768197 | SCV004677168 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met1373Ilefs*5) 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 (rs752305132, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 595103). For these reasons, this variant has been classified as Pathogenic. |