Submissions for variant NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)

gnomAD frequency: 0.04795  dbSNP: rs35761929

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035330	SCV000058978	benign	not specified	2010-09-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035330	SCV000303017	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246517	SCV000318409	benign	Cardiovascular phenotype	2015-06-29	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.
Eurofins Ntd Llc (ga)	RCV000035330	SCV000339419	benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141107	SCV001301432	benign	Isolated Nonsyndromic Congenital Heart Disease	2018-03-06	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	RCV001510859	SCV001718006	benign	Alagille syndrome due to a JAG1 point mutation	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035330	SCV003928856	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529886	SCV001744133	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035330	SCV001925550	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000035330	SCV001929837	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035330	SCV001953575	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035330	SCV001975341	benign	not specified		no assertion criteria provided	clinical testing