Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547466 | SCV001542107 | uncertain significance | Blau syndrome; Regional enteritis | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 390 of the NOD2 protein (p.Asp390Val). This variant is present in population databases (rs769622495, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of Blau syndrome (PMID: 25209167). ClinVar contains an entry for this variant (Variation ID: 1043683). 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 with a negative predictive value of 95%. 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. |
Genome Diagnostics Laboratory, |
RCV002264274 | SCV002543689 | likely benign | Autoinflammatory syndrome | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001729854 | SCV001977929 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001729854 | SCV001978561 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001729854 | SCV001980322 | uncertain significance | not provided | no assertion criteria provided | clinical testing |