Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000591645 | SCV000707304 | uncertain significance | not provided | 2017-03-28 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002483636 | SCV002786543 | uncertain significance | Polycystic kidney disease 4 | 2022-02-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002532562 | SCV003263354 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-04-22 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2189 of the PKHD1 protein (p.Val2189Ile). This variant is present in population databases (rs142552070, gnomAD 0.03%). 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: 501080). 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. |
| Gene |
RCV000591645 | SCV003915253 | uncertain significance | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |