Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040593 | SCV000064284 | likely pathogenic | Primary dilated cardiomyopathy | 2012-09-10 | no assertion criteria provided | clinical testing | The Glu22041fs variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 22041 and lead to a pre mature termination codon 3 amino acids downstream. Heterozygous loss of function of the TTN gene is strongly associated with DCM (Herman 2012). In summary, the Glu22041fs variant is likely pathogenic, though additional studies are required to fully establish its clinical significance. |