Submissions for variant NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=)

gnomAD frequency: 0.22213  dbSNP: rs1051421

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035333	SCV000058981	benign	not specified	2016-03-30	criteria provided, single submitter	clinical testing	p.Tyr1176Tyr in exon 26 of JAG1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 28% (18682/66732) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs1051421).
PreventionGenetics, part of Exact Sciences	RCV000035333	SCV000303028	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245407	SCV000317524	benign	Cardiovascular phenotype	2015-06-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000359120	SCV000432880	benign	Isolated Nonsyndromic Congenital Heart Disease	2018-01-12	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	RCV001516691	SCV001725006	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730480	SCV001980822	benign	Deafness, congenital heart defects, and posterior embryotoxon	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516691	SCV001980825	benign	Alagille syndrome due to a JAG1 point mutation	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730479	SCV001980826	benign	Tetralogy of Fallot	2021-08-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035333	SCV003928852	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035333	SCV001919470	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035333	SCV001959923	benign	not specified		no assertion criteria provided	clinical testing