ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89572C>T (p.Gln29858Ter)

dbSNP: rs1316523481
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 RCV001007993 SCV001167725 pathogenic not provided 2019-01-23 criteria provided, single submitter clinical testing The Q28217X pathogenic variant in the TTN gene has not been published as pathogenic or benign to our knowledge. Q28217X is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman et al., 2012). However, Q28217X 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). Furthermore, the Q28217X variant has not been observed in large population cohorts (Lek et al., 2016). In summary, Q28217X in the TTN gene is interpreted as a 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.