Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591244 | SCV000709080 | uncertain significance | not provided | 2017-06-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456313 | SCV002613955 | uncertain significance | Cardiovascular phenotype | 2019-01-03 | criteria provided, single submitter | clinical testing | The p.T11588I variant (also known as c.34763C>T), located in coding exon 131 of the TTN gene, results from a C to T substitution at nucleotide position 34763. The threonine at codon 11588 is replaced by isoleucine, 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. |