Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001969316 | SCV002251851 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-07-26 | criteria provided, single submitter | clinical testing | 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. 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 variant has been observed in individual(s) with clinical features of polycystic kidney disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 3369 of the PKHD1 protein (p.Ser3369Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. |
| Fulgent Genetics, |
RCV002497924 | SCV002778942 | uncertain significance | Polycystic kidney disease 4 | 2021-12-14 | criteria provided, single submitter | clinical testing |