Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218557 | SCV001390445 | uncertain significance | Blau syndrome; Inflammatory bowel disease 1 | 2019-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with arginine at codon 842 of the NOD2 protein (p.Cys842Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs146313066, ExAC 0.005%). This variant has been observed in a cohort of individuals affected with Crohn's disease (PMID: 30166421). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |