Submissions for variant NM_000214.3(JAG1):c.1797T>C (p.Cys599=)

gnomAD frequency: 0.00003  dbSNP: rs746760284

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002143485	SCV002453632	benign	Alagille syndrome due to a JAG1 point mutation	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002409574	SCV002716892	likely benign	Cardiovascular phenotype	2022-06-09	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	RCV002500288	SCV002811262	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	2021-09-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553828	SCV004717741	likely benign	JAG1-related disorder	2022-09-27	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).