ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) (rs543102139)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216762 SCV000729275 likely benign not specified 2017-05-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000284481 SCV000423295 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323171 SCV000423296 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380150 SCV000423297 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286745 SCV000423298 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341707 SCV000423299 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401971 SCV000423300 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534179 SCV000643194 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216762 SCV000272652 uncertain significance not specified 2015-07-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu12297Lys v ariant in TTN has not been previously reported in individuals with cardiomyopath y but has been identified in 0.15% (13/8394) East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, while the clinical significance of t he p.Glu12297Lys variant is uncertain, its frequency suggests that it is more li kely 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.