Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000524068 | SCV000621683 | likely pathogenic | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | The Y25809X likely pathogenic variant in the TTN gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman et al., 2012). However, the Y25809X variant is 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). Furthermore, the Y25809X variant is not observed in large population cohorts (Lek et al., 2016). |