Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000518949 | SCV000619834 | likely pathogenic | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | The E25177X likely pathogenic variant in the TTN gene has not been reported previously as a disease-causing pathogenic variant or as a benign variant, 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, E25177X 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 E25177X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |
Revvity Omics, |
RCV000518949 | SCV004238780 | likely pathogenic | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing |