ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003389298 SCV004101334 likely pathogenic Dilated cardiomyopathy 1G 2023-05-25 criteria provided, single submitter clinical testing The TTN c.106928_106932del (p.Val35643AlafsTer5) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant is located in exon 360 of the meta transcript of titin and within the M-line, which is highly expressed in cardiac tissue (PMID: 25589632). In a meta-analysis of TTN truncating variants in DCM patients and controls, variants in this region were associated with a significantly increased risk of developing DCM (odds ratio 3.7) (PMID: 27869827). To our knowledge, this variant has not been reported in the peer-reviewed literature. It is also not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.106928_106932del (p.Val35643AlafsTer5) variant is classified as likely pathogenic for dilated cardiomyopathy.

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.