Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172471 | SCV000051231 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002345595 | SCV002649257 | uncertain significance | Cardiovascular phenotype | 2018-01-25 | criteria provided, single submitter | clinical testing | The p.I1875T variant (also known as c.5624T>C), located in coding exon 26 of the TTN gene, results from a T to C substitution at nucleotide position 5624. The isoleucine at codon 1875 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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 alterations remains unclear. |