ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)

dbSNP: rs1555828321
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) RCV000593424 SCV000706114 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000593424 SCV001776517 pathogenic not provided 2020-12-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26076142, 31343788, 10220506)
MGZ Medical Genetics Center RCV002289890 SCV002580290 pathogenic Alagille syndrome due to a JAG1 point mutation 2021-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002289890 SCV004298035 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 500252). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 10220506, 34185059). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys633*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599).

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.