Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199283 | SCV000250489 | pathogenic | not provided | 2014-01-16 | criteria provided, single submitter | clinical testing | The c.2619_2620delGG mutation in the JAG1 gene causes a frameshift starting with codon Alanine 874, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Ala874GlnfsX4. 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 |