Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313389 | SCV000739162 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-11 | criteria provided, single submitter | clinical testing | The p.A291E variant (also known as c.872C>A), located in coding exon 7 of the MED12 gene, results from a C to A substitution at nucleotide position 872. The alanine at codon 291 is replaced by glutamic acid, an amino acid with dissimilar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.001% (2/180167) total alleles studied, with 0 hemizygotes observed. The highest observed frequency was 0.002% (2/80340) of non-Finnish European alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003767813 | SCV002965519 | likely benign | FG syndrome | 2022-12-06 | criteria provided, single submitter | clinical testing |