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

dbSNP: rs104895438

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001781188	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 Laboratory Services, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002512787	SCV001026579	benign	Blau syndrome; Regional enteritis	2024-01-29	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; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1	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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224090	SCV003920293	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.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.
CeGaT Center for Human Genetics Tuebingen	RCV003421904	SCV004139320	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NOD2: BS1, BS2
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