Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617524 | SCV000735912 | uncertain significance | Cardiovascular phenotype | 2017-07-14 | criteria provided, single submitter | clinical testing | The p.K26161T variant (also known as c.78482A>C), located in coding exon 185 of the TTN gene, results from an A to C substitution at nucleotide position 78482. The lysine at codon 26161 is replaced by threonine, an amino acid with some similar properties. This amino acid position is not 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. |