Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000984959 | SCV002251171 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with asparagine at codon 1485 of the PKHD1 protein (p.Ser1485Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). 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: 800787). 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 not expected to disrupt PKHD1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002488074 | SCV002789385 | uncertain significance | Polycystic kidney disease 4 | 2021-12-22 | criteria provided, single submitter | clinical testing | |
| Biochemical Molecular Genetic Laboratory, |
RCV000984959 | SCV001132876 | uncertain significance | Autosomal recessive polycystic kidney disease | 2019-01-29 | no assertion criteria provided | clinical testing |