Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000249139 | SCV000318123 | uncertain significance | Cardiovascular phenotype | 2019-02-21 | criteria provided, single submitter | clinical testing | The p.G2866V variant (also known as c.8597G>T), located in coding exon 65 of the FBN2 gene, results from a G to T substitution at nucleotide position 8597. The glycine at codon 2866 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. This variant was not reported in the ExAC database, with coverage at this position. 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. |