ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.413G>A (p.Arg138Gln) (rs104895456)

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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 RCV000328861 SCV000397176 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383429 SCV000397177 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000687315 SCV000814877 uncertain significance Blau syndrome; Inflammatory bowel disease 1 2018-05-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 138 of the NOD2 protein (p.Arg138Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs104895456, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with Crohn's disease (PMID: 11875755). ClinVar contains an entry for this variant (Variation ID: 97877). Experimental studies have shown that this missense change demonstrated reduced NOD2 signaling following stimulation with MDP, reduced basal NFkB activity, and reduced NFkB activity in response to peptidoglycan (PMID: 26500656, 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 RCV000084134 SCV000116265 not provided Sarcoidosis, early-onset no assertion provided not provided

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