Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791352 | SCV000629548 | likely benign | Hereditary hemorrhagic telangiectasia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000559765 | SCV000897485 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367789 | SCV002656754 | uncertain significance | Cardiovascular phenotype | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.E41K variant (also known as c.121G>A), located in coding exon 2 of the ENG gene, results from a G to A substitution at nucleotide position 121. The glutamic acid at codon 41 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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. |