Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617385 | SCV000736181 | uncertain significance | Cardiovascular phenotype | 2017-12-15 | criteria provided, single submitter | clinical testing | The p.G23564R variant (also known as c.70690G>A), located in coding exon 178 of the TTN gene, results from a G to A substitution at nucleotide position 70690. The glycine at codon 23564 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well 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 alteration remains unclear. |