ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2840del (p.Lys947fs)

dbSNP: rs1060501349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461222 SCV000545809 pathogenic Alagille syndrome due to a JAG1 point mutation 2016-12-13 criteria provided, single submitter clinical testing 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). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 23 of the JAG1 mRNA (c.2840delA), causing a frameshift at codon 947. This creates a premature translational stop signal (p.Lys947Serfs*23) and is expected to result in an absent or disrupted protein product.

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