Submissions for variant NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)

gnomAD frequency: 0.00003  dbSNP: rs758687380

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000734933	SCV000863113	uncertain significance	not provided	2018-08-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138116	SCV001298146	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001399659	SCV001601449	likely benign	Alagille syndrome due to a JAG1 point mutation	2024-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004740440	SCV005367203	likely benign	JAG1-related disorder	2024-05-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).