Submissions for variant NM_000214.3(JAG1):c.1383C>T (p.Asp461=)

gnomAD frequency: 0.00006  dbSNP: rs140604589

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001427725	SCV001630409	likely benign	Alagille syndrome due to a JAG1 point mutation	2024-01-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002495588	SCV002802657	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	2021-08-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004616728	SCV005127503	likely benign	Cardiovascular phenotype	2024-06-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV001796489	SCV005331016	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	JAG1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001796489	SCV002034017	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001796489	SCV002034533	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004550150	SCV004779150	likely benign	JAG1-related disorder	2019-11-19	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).