Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000714099 | SCV000844768 | uncertain significance | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343590 | SCV002653831 | uncertain significance | Cardiovascular phenotype | 2019-09-30 | criteria provided, single submitter | clinical testing | The p.T18200I variant (also known as c.54599C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 54599. The threonine at codon 18200 is replaced by isoleucine, 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. |