Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002513887 | SCV001508713 | uncertain significance | Blau syndrome; Regional enteritis | 2023-05-20 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change does not substantially affect NOD2 function (PMID: 12626759). 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: 97870). This missense change has been observed in individual(s) with Crohn's disease (PMID: 11875755). This variant is present in population databases (rs104895455, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 972 of the NOD2 protein (p.Val972Ile). |
| Unité médicale des maladies autoinflammatoires, |
RCV000084127 | SCV000116258 | not provided | Blau syndrome | no assertion provided | not provided |