ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)

gnomAD frequency: 0.00003  dbSNP: rs104895479
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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 RCV001092928 SCV001249670 likely pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Invitae RCV002514475 SCV003443516 pathogenic Blau syndrome; Regional enteritis 2022-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 97838). This missense change has been observed in individuals with Blau syndrome (PMID: 17968944, 32647028). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs104895479, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 587 of the NOD2 protein (p.Arg587Cys).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084095 SCV000116225 not provided Blau syndrome no assertion provided not provided

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