Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV004018189 | SCV004848720 | likely pathogenic | Primary dilated cardiomyopathy | 2022-06-30 | criteria provided, single submitter | clinical testing | The p.Ala22831LeufsX17variant in TTN has not been previously reported in individuals with dilated cardiomyopathy and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 22831 and leads to a premature termination codon 17 amino acids downstream. Loss of function of the TTN gene is an established disease mechanism in autosomal dominant dilated cardiomyopathy. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant dilated cardiomyopathy. ACMG/AMP Criteria applied: PVS1, PM2_Supporting. |