Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607486 | SCV000721880 | likely benign | not specified | 2017-08-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002358700 | SCV002655143 | uncertain significance | Cardiovascular phenotype | 2019-09-30 | criteria provided, single submitter | clinical testing | The p.R20049K variant (also known as c.60146G>A), located in coding exon 155 of the TTN gene, results from a G to A substitution at nucleotide position 60146. The arginine at codon 20049 is replaced by lysine, an amino acid with highly 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 alteration remains unclear. |