Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197516 | SCV000250494 | uncertain significance | not specified | 2015-05-26 | criteria provided, single submitter | clinical testing | The H209R variant in the JAG1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The H209R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H209R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. This variant was found in HG19-EXOME- |