ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs)

dbSNP: rs1555828209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597797 SCV000704466 pathogenic not provided 2016-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091558 SCV005838088 pathogenic Alagille syndrome due to a JAG1 point mutation 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile742Serfs*5) 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: 21752016). ClinVar contains an entry for this variant (Variation ID: 499127). For these reasons, this variant has been classified as Pathogenic.

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