ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)

dbSNP: rs886044009
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393926 SCV000343015 likely pathogenic not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000704790 SCV000833754 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-02-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Gln15877*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20115 amino acids of the TTN protein. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). Truncating variants in TTN have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). For these reasons, this variant has been classified as Likely Pathogenic.

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.