Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196170 | SCV000250479 | pathogenic | not provided | 2014-08-20 | criteria provided, single submitter | clinical testing | The c.192dupC mutation in the JAG1 gene causes a frameshift starting with codon Lysine 65, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Lys65GlnfsX8. 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 a diagnosis of Alagille syndrome. This variant was found in JAG1-T1 |