ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15952del (p.Leu5318fs)

dbSNP: rs778392667
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
Invitae RCV000469038 SCV000542750 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-26 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 54 of the TTN mRNA (c.15952delC), causing a frameshift at codon 5318. This creates a premature translational stop signal of the TTN mRNA (p.Leu5318Serfs*34). While this is not anticipated to result in nonsense mediated decay, it is expected to result in disrupted protein product. This variant is present in population databases (rs778392667, ExAC 0.002%) but has not been reported in the literature in individuals with a TTN-related disease. In summary, although this is a rare truncating variant, truncating variants have been shown to be highly prevalent in the TTN gene in the general population and unaffected individuals (PMID: 26701604, 22335739). Furthermore, this truncation is located outside of a clinically relevant region of the TTN gene (PMID: 25589632). For these reasons it has been classified as a Variant of Uncertain Significance.

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.