ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)

gnomAD frequency: 0.00055  dbSNP: rs104895483
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658748 SCV000780537 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing NOD2: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002513876 SCV001119716 benign Blau syndrome; Regional enteritis 2025-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001781417 SCV001280602 likely benign Inflammatory bowel disease 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000084101 SCV001280603 benign Blau syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002260976 SCV002542677 likely benign Autoinflammatory syndrome 2021-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000658748 SCV004565173 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084101 SCV000116232 not provided Blau syndrome no assertion provided not provided
PreventionGenetics, part of Exact Sciences RCV004748572 SCV005355889 uncertain significance NOD2-related disorder 2024-09-04 no assertion criteria provided clinical testing The NOD2 c.2138G>A variant is predicted to result in the amino acid substitution p.Arg713His. This variant has been reported in individuals with inflammatory bowel disease (Schnitzler et al. 2006. PubMed ID: 16485124; Andreoletti et al. 2017. PubMed ID: 28422189) and orofacial granulomatosis (Mentzer et al. 2016. PubMed ID: 27306066). This variant was also identified in an control population (Andreoletti et al. 2017. PubMed ID: 28422189) and is reported in 0.28% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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