Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003768957 | SCV001214039 | likely benign | FG syndrome | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003283902 | SCV004003939 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-07 | criteria provided, single submitter | clinical testing | The p.I2027V variant (also known as c.6079A>G), located in coding exon 42 of the MED12 gene, results from an A to G substitution at nucleotide position 6079. The isoleucine at codon 2027 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |