ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2844del (p.Lys947_Cys948insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785900 SCV005401021 likely pathogenic Alagille syndrome due to a JAG1 point mutation 2023-06-22 criteria provided, single submitter clinical testing The observed frameshift c.2844del(p.Cys948Ter) variant in JAG1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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