ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs)

dbSNP: rs863223683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196410 SCV000250499 pathogenic not provided 2014-10-30 criteria provided, single submitter clinical testing The c.2924_2925dupCT mutation in the JAG1 gene causes a frameshift starting with codon Threonine 976, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Thr976LeufsX9. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Alagille syndrome. This variant was found in JAG1-T1

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