ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) (rs104895438)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271343 SCV000397238 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 Clinical Services Laboratory,Illumina RCV000328692 SCV000397239 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.
Invitae RCV000883284 SCV001026579 benign Blau syndrome; Inflammatory bowel disease 1 2020-11-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280996 SCV001468389 uncertain significance Blau syndrome; Inflammatory bowel disease 1; Psoriatic arthritis, susceptibility to; Yao syndrome 2019-12-12 criteria provided, single submitter clinical testing NOD2 NM_022162.2 exon 4 p.Ala612Thr (c.1834G>A): This variant has been reported in the literature in at least 3 individuals with Inflammatory Bowel Disease (IBD)/Crohn's disease (Lesage 2002 PMID:11875755, Rivas 2018 PMID:29795570, Schiff 2018 PMID:30167848). This variant is present in 0.7% (76/10370) of Ashkenazi Jewish alleles, including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-50745656-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID: 4700). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
OMIM RCV000328692 SCV000025141 uncertain significance Blau syndrome 2005-02-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000328692 SCV000116228 not provided Blau syndrome no assertion provided not provided

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