Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002513890 | SCV001387161 | uncertain significance | Blau syndrome; Regional enteritis | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 301 of the NOD2 protein (p.Ala301Val). This variant is present in population databases (rs104895426, gnomAD 0.01%). This missense change has been observed in individual(s) with Crohn disease (PMID: 11385576). ClinVar contains an entry for this variant (Variation ID: 97884). 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 expected to disrupt NOD2 protein function with a positive predictive value of 80%. 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. |
Unité médicale des maladies autoinflammatoires, |
RCV000084141 | SCV000116272 | not provided | Blau syndrome | no assertion provided | not provided |