ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn)

dbSNP: rs1278689263
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734924 SCV000863104 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001340733 SCV001534560 likely benign Alagille syndrome due to a JAG1 point mutation 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493364 SCV002778188 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 2022-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027097 SCV005032987 uncertain significance Cardiovascular phenotype 2023-11-27 criteria provided, single submitter clinical testing The p.D1043N variant (also known as c.3127G>A), located in coding exon 25 of the JAG1 gene, results from a G to A substitution at nucleotide position 3127. The aspartic acid at codon 1043 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.