Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Department, |
RCV000757958 | SCV000882822 | likely pathogenic | Alagille syndrome due to a JAG1 point mutation | 2018-09-20 | no assertion criteria provided | clinical testing | The Gly795Ala heterozygous variant in JAG1 has been reported in 1 Armenian girl with Alagille syndrome. The girl was born at 37 weeks with: bile thickening syndrome, Alagille syndrome, neonatal cholestasis, stenosis of the pulmonary arteries, heart disease. |