Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215302 | SCV000272786 | uncertain significance | not specified | 2015-03-30 | criteria provided, single submitter | clinical testing | The p.Arg26230Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/65408 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg26230Lys variant is uncertain. |
Ambry Genetics | RCV002354616 | SCV002653738 | uncertain significance | Cardiovascular phenotype | 2020-09-18 | criteria provided, single submitter | clinical testing | The p.R19733K variant (also known as c.59198G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 59198. The arginine at codon 19733 is replaced by lysine, 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. |