ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del)

dbSNP: rs1345611817
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 RCV001965864 SCV002239545 uncertain significance Alagille syndrome due to a JAG1 point mutation 2023-10-14 criteria provided, single submitter clinical testing This variant, c.134_154del, results in the deletion of 7 amino acid(s) of the JAG1 protein (p.Val45_Asn51del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1461464). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004552139 SCV004106768 uncertain significance JAG1-related disorder 2023-04-10 criteria provided, single submitter clinical testing The JAG1 c.134_154del21 variant is predicted to result in an in-frame deletion (p.Val45_Asn51del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10653581-CCGTTCTGCAGCTCCCCGTTCA-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.