ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.73_74del (p.Arg25fs)

dbSNP: rs2067513100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073553 SCV001239101 likely pathogenic Retinal dystrophy 2019-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554668 SCV003214923 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-06-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 865944). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg25Serfs*47) 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).

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