Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000714154 | SCV000844837 | pathogenic | not provided | 2018-06-25 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002493270 | SCV002789867 | pathogenic | Familial juvenile hyperuricemic nephropathy type 1 | 2022-03-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000714154 | SCV004297679 | pathogenic | not provided | 2024-01-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 185 of the UMOD protein (p.Arg185Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with dominant tubulointerstitial kidney disease (PMID: 21868615, 32450155). ClinVar contains an entry for this variant (Variation ID: 586922). 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 UMOD protein function with a positive predictive value of 95%. This variant disrupts the p.Arg185 amino acid residue in UMOD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21868615, 32450155). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |