Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513886 | SCV001378690 | uncertain significance | Blau syndrome; Regional enteritis | 2022-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 924 of the NOD2 protein (p.Gly924Asp). This variant is present in population databases (rs104895453, gnomAD 0.01%). 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 NOD2 protein function. ClinVar contains an entry for this variant (Variation ID: 97867). This missense change has been observed in individual(s) with Chrohn disease (PMID: 11875755). |
Genome Diagnostics Laboratory, |
RCV002260987 | SCV002542711 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000084124 | SCV000116255 | not provided | Blau syndrome | no assertion provided | not provided |