Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154917 | SCV000204599 | uncertain significance | not specified | 2013-04-30 | criteria provided, single submitter | clinical testing | The Ile22954Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/3692 African American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational analyses (biochemical amino acid properties, conservation, AlignGVG D, PolyPhen2, and SIFT) do not provide strong support for or against an impact t o the normal function of the TTN protein. In summary, additional information is needed to fully assess the clinical significance of this variant. |
Athena Diagnostics Inc | RCV001289392 | SCV001477167 | uncertain significance | not provided | 2020-04-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336326 | SCV002640909 | uncertain significance | Cardiovascular phenotype | 2019-08-15 | criteria provided, single submitter | clinical testing | The p.I16457T variant (also known as c.49370T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 49370. The isoleucine at codon 16457 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. |