Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152162 | SCV000200881 | uncertain significance | not specified | 2014-04-02 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Lys31152Arg var iant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Lysine (Lys) at position 31152 is not conserved in evolution and >15 bird and fish species carry an arginine (Arg), suggesting t hat this change may be tolerated. Although this data raises the possibility that the Lys31152Arg variant may be benign, additional studies are needed to fully d etermine this with confidence. |
Ambry Genetics | RCV002381475 | SCV002673598 | uncertain significance | Cardiovascular phenotype | 2019-04-16 | criteria provided, single submitter | clinical testing | The p.K24655R variant (also known as c.73964A>G), located in coding exon 185 of the TTN gene, results from an A to G substitution at nucleotide position 73964. The lysine at codon 24655 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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. |