Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487117 | SCV000568764 | pathogenic | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15906409, 20172850, 27019444, 20507940) |
Counsyl | RCV000049860 | SCV000789515 | likely pathogenic | Finnish congenital nephrotic syndrome | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000487117 | SCV001233250 | pathogenic | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ser572 amino acid residue in NPHS1. Other variant(s) that disrupt this residue have been observed in individuals with NPHS1-related conditions (PMID: 18503012, 26248470), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 56447). This missense change has been observed in individual(s) with congenital nephrotic syndrome (PMID: 15906409, 20172850, 29474669). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs386833889, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 572 of the NPHS1 protein (p.Ser572Asn). |
Fulgent Genetics, |
RCV000049860 | SCV002813939 | likely pathogenic | Finnish congenital nephrotic syndrome | 2022-03-11 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049860 | SCV000082269 | probable-pathogenic | Finnish congenital nephrotic syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |