ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter)

dbSNP: rs1060501352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470074 SCV000545816 pathogenic Alagille syndrome due to a JAG1 point mutation 2016-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640). A different variant causing the same protein effect has been reported in the literature in an individual with Alagille syndrome (PMID: 16575836). This sequence change creates a premature translational stop signal at codon 948 (p.Cys948*) of the JAG1 gene. It is expected to result in an absent or disrupted protein product.

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