ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) (rs769665204)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769922 SCV000901348 likely pathogenic Cardiomyopathy 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000490001 SCV000576874 likely pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing The S26378X variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the TTN gene have been reported in Human Gene Mutation Database in association with dilated cardiomyopathy and myopathy (Stenson et al., 2014). Furthermore, S26378X is located in the A-band region of TTN, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012). Additionally, the S26378X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Nevertheless, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity. We interpret S26378X as a likely pathogenic variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.