ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1205dup (p.Gln403fs)

dbSNP: rs35615084
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197265 SCV000250485 pathogenic not provided 2014-07-09 criteria provided, single submitter clinical testing The c.1205dupC mutation in the JAG1 gene has been reported previously in association with Alagille syndrome using different nomenclature (Krantz, et al., 1998) . The duplication causes a frameshift starting with codon Glycine 403, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Gln403ThrfsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay This variant was found in JAG1
Invitae RCV000008061 SCV000934811 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-03-10 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: 213558). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 9585603). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln403Thrfs*13) 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).
OMIM RCV000008061 SCV000028266 pathogenic Alagille syndrome due to a JAG1 point mutation 1998-06-01 no assertion criteria provided literature only

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.