Submissions for variant NM_000214.3(JAG1):c.388-4G>C

gnomAD frequency: 0.00002  dbSNP: rs567027490

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000389399	SCV000432949	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088224	SCV000645531	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000728129	SCV000855663	benign	not specified	2017-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000840668	SCV000982596	likely benign	not provided	2019-10-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356471	SCV002620572	likely benign	Cardiovascular phenotype	2018-01-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics	RCV002502301	SCV002811412	benign	Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH	2021-10-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000840668	SCV004149888	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	JAG1: BP4, BS1