Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000997418 | SCV001713225 | uncertain significance | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372719 | SCV002624044 | uncertain significance | Cardiovascular phenotype | 2019-03-28 | criteria provided, single submitter | clinical testing | The p.I13207T variant (also known as c.39620T>C), located in coding exon 144 of the TTN gene, results from a T to C substitution at nucleotide position 39620. The isoleucine at codon 13207 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. |