ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter)

dbSNP: rs886039724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256052 SCV000322672 pathogenic not provided 2016-08-16 criteria provided, single submitter clinical testing The c.377_378delTCinsAA variant in the JAG1 gene results in a nonsense change, F126X, and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The 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.
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223400 SCV003919088 pathogenic Alagille syndrome due to a JAG1 point mutation 2023-04-20 criteria provided, single submitter research

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