ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.703C>T (p.Arg235Cys) (rs104895422)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000328605 SCV000397193 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366926 SCV000397194 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000807310 SCV000947357 uncertain significance Blau syndrome; Inflammatory bowel disease 1 2018-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 235 of the NOD2 protein (p.Arg235Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs104895422, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individuals affected with Crohn's disease (CD) (PMID: 11875755, 12626759, 16278823). ClinVar contains an entry for this variant (Variation ID: 97879). Experimental studies have shown that this missense change moderately effects NOD2 protein function (PMID: 12626759). 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, CHRU Montpellier RCV000084136 SCV000116267 not provided Sarcoidosis, early-onset no assertion provided not provided

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