Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040708 | SCV000064399 | uncertain significance | not specified | 2012-06-26 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The Arg25617X v ariant in TTN has not been reported in the literature but has been detected by o ur laboratory in 1 infant with RCM of Arab ancestry who carried another cardiomy opathy variant of unknown significance. The Arg25617X variant leads to a prematu re termination codon at position 25617, which is predicted to lead to a truncate d or absent protein. Loss of function of the TTN gene is strongly associated wit h cardiomyopathy (DCM; Herman 2012). The Arg25617X variant is likely to severely impact the protein, but given that it has been detected in an individual with R CM (which is currently not associated with variants in TTN), additional studies are needed to determine its clinical significance. |