ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.390dup (p.Ser131fs)

dbSNP: rs886044111
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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) RCV000363100 SCV000343501 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204274 SCV001375473 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser131Valfs*13) 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 variant has not been reported in the literature in individuals affected with JAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289187). For these reasons, this variant has been classified as Pathogenic.

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