Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000039962 | SCV000063653 | uncertain significance | not specified | 2012-10-25 | criteria provided, single submitter | clinical testing | The Val610Leu variant in TTN has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is need ed to fully assess the clinical significance of this variant. |
| Ambry Genetics | RCV002399385 | SCV002712716 | uncertain significance | Cardiovascular phenotype | 2019-08-12 | criteria provided, single submitter | clinical testing | The p.V564L variant (also known as c.1690G>C), located in coding exon 10 of the TTN gene, results from a G to C substitution at nucleotide position 1690. The valine at codon 564 is replaced by leucine, an amino acid with highly similar properties. 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. |