ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe)

gnomAD frequency: 0.00001  dbSNP: rs104895470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514468 SCV000814116 uncertain significance Blau syndrome; Regional enteritis 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 363 of the NOD2 protein (p.Ile363Phe). This variant is present in population databases (rs104895470, gnomAD 0.01%). This missense change has been observed in individual(s) with Crohn's disease (PMID: 15024686). ClinVar contains an entry for this variant (Variation ID: 97820). 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: 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084074 SCV000116202 not provided Blau syndrome no assertion provided not provided

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