Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002563021 | SCV001393681 | uncertain significance | Blau syndrome; Regional enteritis | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 104 of the NOD2 protein (p.Ile104Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NOD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 950012). 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. |
Mayo Clinic Laboratories, |
RCV001509511 | SCV001716260 | uncertain significance | not provided | 2019-04-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497754 | SCV002806787 | uncertain significance | Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 | 2021-12-31 | criteria provided, single submitter | clinical testing |