Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV000788517 | SCV000927664 | pathogenic | not provided | 2018-04-30 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003460426 | SCV004204747 | likely pathogenic | Polycystic kidney disease 4 | 2022-12-29 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000004331 | SCV004292311 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-03-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 4115). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 12506140). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs137852950, gnomAD 0.07%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 3471 of the PKHD1 protein (p.Val3471Gly). |
| OMIM | RCV000004331 | SCV000024502 | pathogenic | Autosomal recessive polycystic kidney disease | 2003-01-01 | no assertion criteria provided | literature only |