ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala)

gnomAD frequency: 0.00001  dbSNP: rs1212026437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610679 SCV000727308 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868072 SCV002114649 likely benign Alagille syndrome due to a JAG1 point mutation 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362862 SCV004053807 uncertain significance Cardiovascular phenotype 2023-07-21 criteria provided, single submitter clinical testing The p.T373A variant (also known as c.1117A>G), located in coding exon 8 of the JAG1 gene, results from an A to G substitution at nucleotide position 1117. The threonine at codon 373 is replaced by alanine, an amino acid with 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.