Submissions for variant NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)

gnomAD frequency: 0.00137  dbSNP: rs104895464

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001781420	SCV000397270	likely benign	Inflammatory bowel disease 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000366861	SCV000397271	benign	Blau syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV002513879	SCV000759543	benign	Blau syndrome; Regional enteritis	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811396	SCV001473116	likely benign	not provided	2022-02-02	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001781420	SCV001524786	uncertain significance	Inflammatory bowel disease 1	2019-10-14	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002260979	SCV002542687	uncertain significance	Autoinflammatory syndrome	2018-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001811396	SCV002585565	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	NOD2: BP4, BS1
GeneDx	RCV001811396	SCV003921617	uncertain significance	not provided	2022-10-24	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30166421, 24986970, 17941079, 12577202, 28814775, Lakatos_2004_Abstract, 16965521, 15770725, 32707200, 12115249)
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000366861	SCV000116238	not provided	Blau syndrome		no assertion provided	not provided