Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001983824 | SCV002279415 | likely benign | Hereditary hemorrhagic telangiectasia | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004045325 | SCV005037545 | uncertain significance | Cardiovascular phenotype | 2023-10-06 | criteria provided, single submitter | clinical testing | The p.T22A variant (also known as c.64A>G), located in coding exon 1 of the ENG gene, results from an A to G substitution at nucleotide position 64. The threonine at codon 22 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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. |