ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) (rs181957743)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000192710 SCV000257867 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000192710 SCV000719435 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000192710 SCV000249269 uncertain significance not specified 2015-04-17 criteria provided, single submitter clinical testing
Invitae RCV000464720 SCV000555361 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000192710 SCV000711410 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val16457Ile v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been reported in ClinVar (Variation ID 212474). This variant has been identified in 0.14% (16/11350) of Latino chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181957743). Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Val16457Ile variant is uncertain, its frequency suggests that it is mo re likely to be benign.

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.