ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)

gnomAD frequency: 0.00001  dbSNP: rs1454234098
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) RCV000591762 SCV000703271 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001342639 SCV001536583 likely benign Alagille syndrome due to a JAG1 point mutation 2022-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024732 SCV003883049 uncertain significance Cardiovascular phenotype 2023-02-09 criteria provided, single submitter clinical testing The c.2671G>A (p.A891T) alteration is located in exon 22 (coding exon 22) of the JAG1 gene. This alteration results from a G to A substitution at nucleotide position 2671, causing the alanine (A) at amino acid position 891 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000591762 SCV005194881 uncertain significance not provided criteria provided, single submitter not provided

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.