Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199531 | SCV000250498 | pathogenic | not provided | 2015-01-30 | criteria provided, single submitter | clinical testing | The c.1946_1951delACTCCTinsCTCC mutation in the JAG1 gene causes a frameshift starting with codon Asparagine 649, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Asn649ThrfsX7. 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-T2 |