Submissions for variant NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)

dbSNP: rs876660981

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000223536	SCV000278990	pathogenic	not provided	2018-11-21	criteria provided, single submitter	clinical testing	The c.1485_1486delCT pathogenic variant in the JAG1 gene has been reported previously in association with Alagille syndrome (Jurkiewicz et al., 2005; Crosnier et al., 1999). The c.1485_1486delCT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The deletion causes a frameshift starting with codon Cysteine 496, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Cys496PhefsX9. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Eurofins Ntd Llc (ga)	RCV000223536	SCV000704811	pathogenic	not provided	2016-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000223536	SCV004011326	pathogenic	not provided	2024-10-01	criteria provided, single submitter	clinical testing	JAG1: PVS1, PM2, PS4:Moderate
Genomic Medicine Lab, University of California San Francisco	RCV003998613	SCV004847154	pathogenic	Tetralogy of Fallot	2023-05-26	criteria provided, single submitter	clinical testing
OMIM	RCV000008066	SCV000028271	pathogenic	Alagille syndrome due to a JAG1 point mutation	2002-09-15	no assertion criteria provided	literature only