Description
The c.11065_11068dupAGTG variant of uncertain significance in the TTN gene (also reported as c.12016_12019dupAGTG in transcript NM_001267550.1) has been identified previously in two related individuals with DCM (Jansweijer et al., 2017). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.11065_11068dupAGTG variant causes a shift in reading frame starting at codon glycine 3690, changing it to a glutamic acid, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Gly3690GlufsX7. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Nevertheless, other truncating TTN variants have been reported in approximately 3% of control alleles, and the c.11065_11068dupAGTG variant is not located in the A-band region of titin, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
