ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter)

dbSNP: rs1060501351
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476270 SCV000545814 pathogenic Alagille syndrome due to a JAG1 point mutation 2016-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 181 (p.Tyr181*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640).

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