ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg)

gnomAD frequency: 0.00001  dbSNP: rs146313066
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Total submissions: 1
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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.

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