Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243876 | SCV001417062 | benign | Hereditary hemorrhagic telangiectasia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348827 | SCV002651873 | uncertain significance | Cardiovascular phenotype | 2021-01-12 | criteria provided, single submitter | clinical testing | The p.D189N variant (also known as c.565G>A), located in coding exon 5 of the ENG gene, results from a G to A substitution at nucleotide position 565. The aspartic acid at codon 189 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |