Submissions for variant NM_000214.3(JAG1):c.909T>C (p.His303=)

gnomAD frequency: 0.00121  dbSNP: rs139574260

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000249515	SCV000318833	likely benign	Cardiovascular phenotype	2016-01-10	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.
Eurofins Ntd Llc (ga)	RCV000195826	SCV000333219	likely benign	not specified	2015-07-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382364	SCV000432932	benign	Isolated Nonsyndromic Congenital Heart Disease	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000861319	SCV001001595	benign	Alagille syndrome due to a JAG1 point mutation	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478684	SCV002797487	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	2021-10-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004584626	SCV005074420	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	JAG1: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center	RCV000195826	SCV001922559	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000195826	SCV001930231	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000195826	SCV001975475	benign	not specified		no assertion criteria provided	clinical testing