Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000153723 | SCV000203281 | uncertain significance | not provided | 2015-10-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001379301 | SCV001577076 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 660 of the PKHD1 protein (p.Cys660Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 33940108; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 167494). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PKHD1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV000153723 | SCV004034337 | likely pathogenic | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | Reported with a second variant (phase unknown) in a patient with polycystic kidney disease in published literature (Burgmaier et al., 2021); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33940108) |