ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.484G>A (p.Val162Ile) (rs139571975)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000389105 SCV000397180 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295019 SCV000397181 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000817583 SCV000958152 uncertain significance Blau syndrome; Inflammatory bowel disease 1 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 162 of the NOD2 protein (p.Val162Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs139571975, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with NOD2-related disease. ClinVar contains an entry for this variant (Variation ID: 319427). Experimental studies have shown that this missense change disrupts NOD2 protein function (PMID: 26500656). 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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