Submissions for variant NM_000214.3(JAG1):c.399G>A (p.Thr133=)

gnomAD frequency: 0.00024  dbSNP: rs763154396

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423465	SCV000533034	likely benign	not specified	2016-10-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528720	SCV000645532	likely benign	Alagille syndrome due to a JAG1 point mutation	2023-09-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000732793	SCV000860779	uncertain significance	not provided	2018-04-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374703	SCV002625041	likely benign	Cardiovascular phenotype	2019-09-26	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.
PreventionGenetics, part of Exact Sciences	RCV004551495	SCV004711712	likely benign	JAG1-related disorder	2022-07-22	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).