Submissions for variant NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)

gnomAD frequency: 0.00006  dbSNP: rs201785359

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000593228	SCV000707405	likely benign	not specified	2017-04-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000867461	SCV001008691	likely benign	Alagille syndrome due to a JAG1 point mutation	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138645	SCV001298712	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.
Fulgent Genetics, Fulgent Genetics	RCV002506431	SCV002794594	likely 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	2021-10-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437297	SCV004149881	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	JAG1: PP2, PP3, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003437297	SCV005207366	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004553334	SCV004776460	likely benign	JAG1-related disorder	2020-03-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).