ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78977del (p.Lys26326fs)

dbSNP: rs1553592771
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
GeneDx RCV000627580 SCV000748580 likely pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing The c.74054delA likely pathogenic variant in the TTN gene has not been published as pathogenic or benign to our knowledge. c.74054delA causes a shift in reading frame starting at codon lysine 24685, changing it to a serine, and creating a premature stop codon at position 17 of the new reading frame, denoted p.Lys24685SerfsX17. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman et al., 2012). However, c.74054delA 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). Moreover, the c.74054delA variant has not been observed in large population cohorts (Lek et al., 2016).In summary, c.74054delA in the TTN gene is interpreted 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.