Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313393 | SCV000739168 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-10-24 | criteria provided, single submitter | clinical testing | The p.L1624V variant (also known as c.4870T>G), located in coding exon 36 of the MED12 gene, results from a T to G substitution at nucleotide position 4870. The leucine at codon 1624 is replaced by valine, 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. |