Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092928 | SCV001249670 | likely pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514475 | SCV003443516 | pathogenic | Blau syndrome; Regional enteritis | 2022-10-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 NOD2 protein function. ClinVar contains an entry for this variant (Variation ID: 97838). This missense change has been observed in individuals with Blau syndrome (PMID: 17968944, 32647028). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs104895479, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 587 of the NOD2 protein (p.Arg587Cys). |
Unité médicale des maladies autoinflammatoires, |
RCV000084095 | SCV000116225 | not provided | Blau syndrome | no assertion provided | not provided |