Submissions for variant NM_000214.3(JAG1):c.2778C>T (p.Phe926=)

gnomAD frequency: 0.00109  dbSNP: rs147793030

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000250492	SCV000319154	likely benign	Cardiovascular phenotype	2016-04-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga)	RCV000263872	SCV000334740	uncertain significance	not provided	2017-12-11	criteria provided, single submitter	clinical testing
Invitae	RCV001083311	SCV000557605	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138548	SCV001298609	benign	Isolated Nonsyndromic Congenital Heart Disease	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000263872	SCV001754459	likely benign	not provided	2018-08-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22040217)
CeGaT Center for Human Genetics Tuebingen	RCV000263872	SCV004149876	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	JAG1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000263872	SCV001978097	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000263872	SCV001980572	likely benign	not provided		no assertion criteria provided	clinical testing