ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)

gnomAD frequency: 0.00340  dbSNP: rs5743277
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178334 SCV000230397 likely benign not specified 2014-10-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001781536 SCV000397256 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 RCV000368536 SCV000397257 likely 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). 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.
CeGaT Center for Human Genetics Tuebingen RCV000488013 SCV000575052 benign not provided 2024-08-01 criteria provided, single submitter clinical testing NOD2: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002517729 SCV000759547 likely benign Blau syndrome; Regional enteritis 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488013 SCV001477731 likely benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262774 SCV002543745 uncertain significance Autoinflammatory syndrome 2022-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000488013 SCV002558424 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing Observed in individuals with inflammatory bowel disease and other auto-inflammatory disorders (Lesage et al., 2002; Yao et al., 2012; Shen et al., 2015; Androletti et al., 2017; Burillo-Sanz et al., 2017; Li et al., 2020); Case control studies suggest this variant may be associated with Crohn's disease (Rivas et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in 0.32% (887/280050 alleles) in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32707200, 22942351, 26164256, 28814775, 28422189, 26070941, 11875755, 21983784, 33394828, 33927005, 35211104, 34975878)

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