ClinVar Miner

Submissions for variant NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) (rs104895427)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178335 SCV000230398 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369785 SCV000397211 likely benign Blau syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277616 SCV000397212 likely benign Crohn disease 2016-06-14 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768031 SCV000898857 uncertain significance Blau syndrome; Inflammatory bowel disease 1; Yao syndrome 2018-05-22 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 RCV000785614 SCV000924193 uncertain significance Inflammatory bowel disease 1 criteria provided, single submitter research
Invitae RCV000178335 SCV001107632 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084142 SCV000116273 not provided Sarcoidosis, early-onset no assertion provided not provided

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