ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2042C>T (p.Thr681Met)

gnomAD frequency: 0.00002  dbSNP: rs772675011
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362843 SCV001558886 likely benign Alagille syndrome due to a JAG1 point mutation 2022-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420794 SCV002721732 uncertain significance Cardiovascular phenotype 2022-09-05 criteria provided, single submitter clinical testing The p.T681M variant (also known as c.2042C>T), located in coding exon 16 of the JAG1 gene, results from a C to T substitution at nucleotide position 2042. The threonine at codon 681 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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.