ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)

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 RCV002890513 SCV003242389 benign Alagille syndrome due to a JAG1 point mutation 2023-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004065976 SCV004064480 uncertain significance Cardiovascular phenotype 2023-08-22 criteria provided, single submitter clinical testing The c.3178C>T (p.R1060W) alteration is located in exon 25 (coding exon 25) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 3178, causing the arginine (R) at amino acid position 1060 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, 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.