ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys)

gnomAD frequency: 0.00001  dbSNP: rs3813758
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537445 SCV000960363 uncertain significance Blau syndrome; Regional enteritis 2023-12-04 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 760 of the NOD2 protein (p.Arg760Cys). This variant is present in population databases (rs3813758, gnomAD 0.005%). This missense change has been observed in individual(s) with Crohn’s disease (PMID: 16485124). ClinVar contains an entry for this variant (Variation ID: 662116). 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%. 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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