ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter)

dbSNP: rs759763539
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212752 SCV001384347 pathogenic Alagille syndrome due to a JAG1 point mutation 2019-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu553*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed de novo in an individual with Alagille syndrome (PMID: 11180599). Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). For these reasons, this variant has been classified as Pathogenic.

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