Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000594034 | SCV000708207 | uncertain significance | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000638098 | SCV000759578 | uncertain significance | Nephronophthisis | 2025-02-03 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 529 of the NPHP1 protein (p.Ile529Met). This variant is present in population databases (rs147945403, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 501727). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NPHP1 protein function with a negative predictive value of 80%. 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. |
| Fulgent Genetics, |
RCV005019023 | SCV005651142 | likely benign | Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 | 2024-05-24 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004543376 | SCV004795012 | likely benign | NPHP1-related disorder | 2023-03-30 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |