Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035867 | SCV001199206 | uncertain significance | Nephronophthisis | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1235 of the NPHP4 protein (p.Arg1235His). This variant is present in population databases (rs569553635, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 835062). 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. 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. |
Blueprint Genetics | RCV001075230 | SCV001240844 | uncertain significance | Retinal dystrophy | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481852 | SCV002791125 | uncertain significance | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-03-16 | criteria provided, single submitter | clinical testing |