Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414545 | SCV000490717 | likely pathogenic | not provided | 2017-01-06 | criteria provided, single submitter | clinical testing | The A720E variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. The A720E variant is a non-conservative amino acid substitution, whichis likely to impact secondary protein structure as these residues differ in polarity, charge, size and/orother properties. This substitution occurs at a position that is conserved across species and in silicoanalysis predicts this variant is probably damaging to the protein structure/function. The A720Evariant has not been published as a pathogenic variant, nor has it been reported as a benign variant toour knowledge and is not located within a functional or structural domain of the protein. Therefore,this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded |