ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)

gnomAD frequency: 0.00001  dbSNP: rs369444690
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040731 SCV000064422 likely benign not specified 2013-10-29 criteria provided, single submitter clinical testing Tyr26547Tyr in exon 277 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/8264 European Am erican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingt on.edu/EVS; rs369444690). Tyr26547Tyr in exon 277 of TTN (rs369444690; allele f requency = 1/8264) **
Eurofins Ntd Llc (ga) RCV000727242 SCV000706906 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV001078979 SCV000765153 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162349 SCV003883349 likely benign Cardiovascular phenotype 2022-12-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.