Submissions for variant NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=)

gnomAD frequency: 0.71278  dbSNP: rs1051419

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000250727	SCV000317651	benign	Cardiovascular phenotype	2015-06-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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	RCV000270345	SCV000432884	benign	Isolated Nonsyndromic Congenital Heart Disease	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.
Eurofins Ntd Llc (ga)	RCV000125430	SCV000861679	benign	not specified	2018-05-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516692	SCV001725007	benign	Alagille syndrome due to a JAG1 point mutation	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730566	SCV001980827	benign	Deafness, congenital heart defects, and posterior embryotoxon	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516692	SCV001980828	benign	Alagille syndrome due to a JAG1 point mutation	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730565	SCV001980829	benign	Tetralogy of Fallot	2021-08-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125430	SCV003928851	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717022	SCV005312317	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004551219	SCV000303027	benign	JAG1-related disorder	2023-02-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000125430	SCV001743592	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125430	SCV001921852	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000125430	SCV001958608	benign	not specified		no assertion criteria provided	clinical testing