ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer)

dbSNP: rs2122607689
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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 RCV001863756 SCV002120124 pathogenic Alagille syndrome due to a JAG1 point mutation 2021-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu563*) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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