Submissions for variant NM_000214.3(JAG1):c.765C>T (p.Tyr255=)

gnomAD frequency: 0.42930  dbSNP: rs1131695

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000199026	SCV000303036	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000254531	SCV000317546	benign	Cardiovascular phenotype	2015-06-23	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000293317	SCV000432936	benign	Isolated Nonsyndromic Congenital Heart Disease	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae	RCV001516693	SCV001725008	benign	Alagille syndrome due to a JAG1 point mutation	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730575	SCV001980833	benign	Deafness, congenital heart defects, and posterior embryotoxon	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516693	SCV001980834	benign	Alagille syndrome due to a JAG1 point mutation	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730574	SCV001980836	benign	Tetralogy of Fallot	2021-08-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000199026	SCV003928846	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132569	SCV000172511	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000199026	SCV001741543	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000199026	SCV001924655	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000199026	SCV001926474	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000132569	SCV001955124	likely benign	not provided		no assertion criteria provided	clinical testing