ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)

gnomAD frequency: 0.00020  dbSNP: rs376870149
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 RCV000154924 SCV000204606 uncertain significance not specified 2013-06-12 criteria provided, single submitter clinical testing The Glu20717Lys variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 2/3830 African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, and PolyP hen2) suggest that this variant may not impact the protein, though this informat ion is not predictive enough to rule out pathogenicity. Additional information i s needed to fully assess the clinical significance of the Glu20717Lys variant.
Invitae RCV000226257 SCV000286807 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001561005 SCV001783523 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326884 SCV002631537 likely benign Cardiovascular phenotype 2020-08-19 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.