Submissions for variant NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)

gnomAD frequency: 0.00004  dbSNP: rs527236046

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000132568	SCV000267369	uncertain significance	Alagille syndrome due to a JAG1 point mutation	2016-03-18	criteria provided, single submitter	reference population
Eurofins Ntd Llc (ga)	RCV000597619	SCV000707404	uncertain significance	not provided	2017-03-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138646	SCV001298713	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV000132568	SCV001402561	benign	Alagille syndrome due to a JAG1 point mutation	2023-05-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498649	SCV002804091	uncertain significance	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	2021-12-21	criteria provided, single submitter	clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132568	SCV000172509	probable-pathogenic	Alagille syndrome due to a JAG1 point mutation		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.