Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199206 | SCV000250492 | pathogenic | not provided | 2013-12-19 | criteria provided, single submitter | clinical testing | The c.3067delG mutation in the JAG1 gene causes a frameshift starting with codon Aspartic acid 1023, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Asp1023MetfsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decayThis variant was found in JAG1-T1 |