Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000049850 | SCV000485629 | likely pathogenic | Finnish congenital nephrotic syndrome | 2016-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513690 | SCV003443151 | uncertain significance | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 446 of the NPHS1 protein (p.Ile446Asn). This variant is present in population databases (rs386833879, gnomAD 0.003%). This missense change has been observed in individual(s) with nephrotic syndrome (PMID: 11854170, 20507940, 26560236). ClinVar contains an entry for this variant (Variation ID: 56437). 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 NPHS1 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. |
Vasylyeva lab, |
RCV000049850 | SCV004123151 | likely pathogenic | Finnish congenital nephrotic syndrome | 2016-01-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000049850 | SCV004191400 | likely pathogenic | Finnish congenital nephrotic syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049850 | SCV000082259 | probable-pathogenic | Finnish congenital nephrotic syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |