ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) (rs1060501347)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459799 SCV000545806 pathogenic Alagille syndrome 1 2017-06-20 criteria provided, single submitter clinical testing This sequence change duplicates 1 nucleotide in exon 11 of the JAG1 mRNA (c.1353dupT), creating a premature translational stop signal at codon 452 (p.Asn452*). It is expected to result in an absent or disrupted protein product. 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.

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