Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003063287 | SCV003455647 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-12-24 | 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 missense change has been observed in individual(s) with polycystic kidney disease (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 2572 of the PKHD1 protein (p.His2572Asp). |