Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594765 | SCV000708374 | uncertain significance | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001358885 | SCV001554742 | uncertain significance | Nephronophthisis | 2023-06-15 | 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 not expected to disrupt NPHP4 protein function. ClinVar contains an entry for this variant (Variation ID: 501862). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs202199543, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 429 of the NPHP4 protein (p.Ser429Thr). |
Fulgent Genetics, |
RCV002498867 | SCV002782098 | uncertain significance | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-05-05 | criteria provided, single submitter | clinical testing |