ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)

gnomAD frequency: 0.00006  dbSNP: rs104895453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513886 SCV001378690 uncertain significance Blau syndrome; Regional enteritis 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 924 of the NOD2 protein (p.Gly924Asp). This variant is present in population databases (rs104895453, gnomAD 0.01%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 97867). This missense change has been observed in individual(s) with Chrohn disease (PMID: 11875755).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002260987 SCV002542711 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084124 SCV000116255 not provided Blau syndrome no assertion provided not provided

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