Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619009 | SCV000736929 | uncertain significance | Cardiovascular phenotype | 2017-09-22 | criteria provided, single submitter | clinical testing | The p.L4014P variant (also known as c.12041T>C), located in coding exon 44 of the TTN gene, results from a T to C substitution at nucleotide position 12041. The leucine at codon 4014 is replaced by proline, an amino acid with similar properties. This amino acid position is poorly 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. |