ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter)

dbSNP: rs876661142
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221335 SCV000279651 pathogenic not provided 2015-12-16 criteria provided, single submitter clinical testing The K694X nonsense variant in the JAG1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Variants resulting in premature termination of protein translation account for more than 70% of mutations in the JAG1 gene associated with Alagille syndrome (Spinner et al., 2001). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome.

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