Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313385 | SCV000739154 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-12-07 | criteria provided, single submitter | clinical testing | The p.A1753V variant (also known as c.5258C>T), located in coding exon 37 of the MED12 gene, results from a C to T substitution at nucleotide position 5258. The alanine at codon 1753 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine 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. |
Invitae | RCV003767812 | SCV001219935 | likely benign | FG syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001571041 | SCV001795439 | likely benign | not provided | 2019-06-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29743117) |