Submissions for variant NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)

gnomAD frequency: 0.00051  dbSNP: rs104895427

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178335	SCV000230398	uncertain significance	not provided	2014-10-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369785	SCV000397211	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001781434	SCV000397212	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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768031	SCV000898857	uncertain significance	Blau syndrome; Yao syndrome; Inflammatory bowel disease 1	2021-03-30	criteria provided, single submitter	clinical testing	NOD2 NM_022162.2 exon 4 p.Arg311Trp (c.931C>T):This variant has been reported in the literature in at least 3 individuals with autoimmune related disease (e.g. Crohn's disease, ulcerative colitis, Behcet's disease), with most authors suggesting this variant may act as a risk allele (Lesage 2002 PMID:11875755, Rivas 2011 PMID:21983784, Burillo-Sanz 2017 PMID:28814775). This variant is present in 0.1% (30/18870) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs104895427). This variant is present in ClinVar (Variation ID:97885). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	RCV001781434	SCV000924193	uncertain significance	Inflammatory bowel disease 1		criteria provided, single submitter	research
Invitae	RCV002514491	SCV001107632	likely benign	Blau syndrome; Regional enteritis	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000178335	SCV002497912	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	NOD2: BS1
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000369785	SCV000116273	not provided	Blau syndrome		no assertion provided	not provided