ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys)

gnomAD frequency: 0.00002  dbSNP: rs104895440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658747 SCV000780536 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV002513875 SCV001508455 uncertain significance Blau syndrome; Regional enteritis 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 713 of the NOD2 protein (p.Arg713Cys). This variant is present in population databases (rs104895440, gnomAD 0.01%). This missense change has been observed in individual(s) with Crohn’s disease (PMID: 11875755, 15770725). ClinVar contains an entry for this variant (Variation ID: 97843). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NOD2 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects NOD2 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 RCV000084100 SCV000116231 not provided Blau syndrome no assertion provided not provided

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