ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41609-2A>C (rs730880244)

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
Invitae RCV000468208 SCV000542627 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-11-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 226 of the TTN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. It occurs in the I band of the TTN gene. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 180578). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, although this is a novel splicing variant in the I band, truncating variants in this region have been shown to be highly prevalent in the TTN gene in the general population and unaffected individuals (PMID: 26701604, 22335739). As a result, this splicing is located outside of a clinically relevant region of the TTN gene (PMID: 25589632). In the absence of confirmed segregation evidence, at this time it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000157572 SCV000207318 likely pathogenic Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing

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.