Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172249 | SCV000051132 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002336412 | SCV002641579 | uncertain significance | Cardiovascular phenotype | 2019-11-20 | criteria provided, single submitter | clinical testing | The p.T17339I variant (also known as c.52016C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 52016. The threonine at codon 17339 is replaced by isoleucine, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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. |