ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)

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
Ambry Genetics RCV002410514 SCV002715599 uncertain significance Cardiovascular phenotype 2022-10-14 criteria provided, single submitter clinical testing The p.P61L variant (also known as c.182C>T), located in coding exon 2 of the JAG1 gene, results from a C to T substitution at nucleotide position 182. The proline at codon 61 is replaced by leucine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774520 SCV004611620 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-17 criteria provided, single submitter clinical testing

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.