Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002942270 | SCV003267171 | uncertain significance | Nephronophthisis | 2023-08-17 | 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 NPHP4 protein function. ClinVar contains an entry for this variant (Variation ID: 2058318). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs749757832, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 759 of the NPHP4 protein (p.Leu759Phe). |
| Institute of Human Genetics, |
RCV004817142 | SCV005073054 | uncertain significance | Retinal dystrophy | 2022-01-01 | no assertion criteria provided | clinical testing |