ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.7dup (p.Ser3fs)

dbSNP: rs863223662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200125 SCV000250475 pathogenic not provided 2014-11-26 criteria provided, single submitter clinical testing The c.7dupT mutation in the JAG1 gene causes a frameshift starting with codon Serine 3, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 70 of the new reading frame, denoted p.Ser3PhefsX70. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant was found in JAG1-T1

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