ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2922dup (p.Thr975fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005200037 SCV005831992 pathogenic Alagille syndrome due to a JAG1 point mutation 2025-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr975Tyrfs*8) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 30968598). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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