Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000253715 | SCV000320188 | uncertain significance | Cardiovascular phenotype | 2020-06-15 | criteria provided, single submitter | clinical testing | The p.R1813M variant (also known as c.5438G>T), located in coding exon 26 of the TTN gene, results from a G to T substitution at nucleotide position 5438. The arginine at codon 1813 is replaced by methionine, an amino acid with similar properties. 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 alteration remains unclear. |