ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.962_964dup (p.Cys322Ter)

dbSNP: rs1600185804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008030 SCV001167763 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing The c.962_964dupAGT pathogenic variant in the JAG1 gene changes a Cysteine residue at codon 322, to a premature Stop codon at this position, denoted p.Cys322Stop. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome.

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