Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001000788 | SCV001157847 | uncertain significance | not specified | 2018-09-26 | criteria provided, single submitter | clinical testing | The TTN c.2601T>A; p.Ser867Arg variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Ser867Arg variant cannot be determined with certainty. |
| Ambry Genetics | RCV002454252 | SCV002738224 | uncertain significance | Cardiovascular phenotype | 2019-12-18 | criteria provided, single submitter | clinical testing | The p.S821R variant (also known as c.2463T>A), located in coding exon 14 of the TTN gene, results from a T to A substitution at nucleotide position 2463. The serine at codon 821 is replaced by arginine, an amino acid with dissimilar 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. |