ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) (rs73036377)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118782 SCV000153350 uncertain significance not provided 2014-03-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152210 SCV000200975 uncertain significance not specified 2014-03-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val23731Asp var iant in TTN has not been reported in individuals with cardiomyopathy, but has be en identified in 2/176 Nigerian and chromosomes and in 1/109 Puerto Rican chromo somes by the 1000 Genomes Project (dbSNP rs73036377). Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. While the variant?s frequency suggests that it is more lik ely benign, it is too low to confidently rule out a disease causing role. Additi onal information is needed to fully assess its clinical significance.
GeneDx RCV000152210 SCV000237583 likely benign not specified 2018-01-11 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.
Invitae RCV001083638 SCV000286844 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118782 SCV000338122 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618164 SCV000737332 likely benign Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification

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.