Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008030 | SCV001167763 | pathogenic | not provided | 2017-05-16 | criteria provided, single submitter | clinical testing | The c.962_964dupAGT pathogenic variant in the JAG1 gene changes a Cysteine residue at codon 322, to a premature Stop codon at this position, denoted p.Cys322Stop. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome. |