Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196035 | SCV000250490 | pathogenic | not provided | 2013-12-03 | criteria provided, single submitter | clinical testing | The c.2948delT mutation in the JAG1 gene creates a premature Stop codon at position 983, denoted p.Leu983Stop (L983X). Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome .The c.2948delT mutation in the JAG1 gene creates a premature Stop codon at position 983, denoted p.Leu983Stop (L983X). This variant was found in JAG1 |