Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003471679 | SCV004204703 | likely pathogenic | Polycystic kidney disease 4 | 2023-03-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003502740 | SCV004293756 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2022-11-24 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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. This missense change has been observed in individuals with polycystic kidney disease (PMID: 19914852, 27752906). This variant is present in population databases (rs202016058, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1875 of the PKHD1 protein (p.Val1875Gly). |