ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)

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
Clinical Genomics Laboratory, Stanford Medicine RCV003988186 SCV004803180 likely pathogenic Dilated cardiomyopathy 1G 2021-06-04 criteria provided, single submitter clinical testing • The p.Glu26126Alafs*3 variant in the TTN gene has not been previously reported in association with disease. • This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). • This variant results in a 8bp insertion, which causes a shift in the protein reading frame, leading to a premature termination codon 3 amino acids downstream. Heterozygous loss of function is an established mechanism of disease for the TTN gene. • The p.Glu26126Alafs*3 variant is located in the A-band of the titin protein. Other pathogenic and likely pathogenic truncating variants have been described in the A-band. • These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Glu26126Alafs*3 variant as likely pathogenic for dilated cardiomyopathy in an autosomal dominant manner based on the information above. [ACMG evidence codes used: PVS1_strong; PM2]

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.