ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)

gnomAD frequency: 0.00004  dbSNP: rs769622495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002547466 SCV001542107 uncertain significance Blau syndrome; Regional enteritis 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 390 of the NOD2 protein (p.Asp390Val). This variant is present in population databases (rs769622495, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of Blau syndrome (PMID: 25209167). ClinVar contains an entry for this variant (Variation ID: 1043683). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264274 SCV002543689 likely benign Autoinflammatory syndrome 2020-12-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729854 SCV001977929 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729854 SCV001978561 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729854 SCV001980322 uncertain significance not provided no assertion criteria provided clinical testing

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