Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314519 | SCV000848229 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-11 | criteria provided, single submitter | clinical testing | The p.D1571N variant (also known as c.4711G>A), located in coding exon 34 of the MED12 gene, results from a G to A substitution at nucleotide position 4711. The aspartic acid at codon 1571 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6336 samples with coverage at this position. 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 variant remains unclear. |
Invitae | RCV003768131 | SCV002292523 | likely benign | FG syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing |