Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000316330 | SCV000345796 | uncertain significance | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000685997 | SCV000813500 | uncertain significance | Nephronophthisis | 2023-07-25 | 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: 291099). This missense change has been observed in individual(s) with pleiotropic heart malformations (PMID: 22550138). This variant is present in population databases (rs769851221, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 883 of the NPHP4 protein (p.Val883Met). |
Fulgent Genetics, |
RCV002487290 | SCV002776927 | uncertain significance | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-04-19 | criteria provided, single submitter | clinical testing |