Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620383 | SCV000735848 | uncertain significance | Cardiovascular phenotype | 2017-06-16 | criteria provided, single submitter | clinical testing | The p.I12507T variant (also known as c.37520T>C), located in coding exon 137 of the TTN gene, results from a T to C substitution at nucleotide position 37520. The isoleucine at codon 12507 is replaced by threonine, an amino acid with 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. |