ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54738del (p.Met18247fs)

dbSNP: rs1160449898
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 RCV001008174 SCV001167940 likely pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing The c.49815delC likely pathogenic variant in the TTN gene has not been published as pathogenic or benign to our knowledge. c.49815delC causes a shift in reading frame starting at codon Methionine 16606, changing it to a Tryptophan, and creating a premature stop codon at position 3 of the new reading frame, denoted p.Met16606TrpfsX3. This likely pathogenic 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.49815delC 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.49815delC variant has not been observed in large population cohorts (Lek et al., 2016).

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.