Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001309173 | SCV001498663 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-11-15 | 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. ClinVar contains an entry for this variant (Variation ID: 1011386). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs369941024, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2797 of the PKHD1 protein (p.Asn2797Ser). |
Natera, |
RCV001309173 | SCV002077980 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-05-18 | no assertion criteria provided | clinical testing |