ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)

dbSNP: rs755427292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216570 SCV000278991 pathogenic not provided 2015-12-02 criteria provided, single submitter clinical testing The C768X nonsense variant in the JAG1 gene has been reported previously in association with Alagille syndrome (Jurkiewicz et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C768X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations
Labcorp Genetics (formerly Invitae), Labcorp RCV002519743 SCV003443945 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 234322). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 24748328). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys768*) 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).

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