ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2966dup (p.Leu989fs)

dbSNP: rs1555827729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469116 SCV000545807 pathogenic Alagille syndrome due to a JAG1 point mutation 2016-07-31 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 24 of the JAG1 mRNA (c.2966dupT), causing a frameshift at codon 989. This creates a premature translational stop signal (p.Leu989Phefs*7) and 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).
Eurofins Ntd Llc (ga) RCV000735018 SCV000863205 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing

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