ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu)

dbSNP: rs577901623
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000216585 SCV000272632 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala9891Glu va riant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.25% (41/16508) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Alanine (Ala ) at position 9891 is not conserved in mammals or evolutionarily distant species and 2 mammals (white rhinoceros and star nosed mole) carry a glutamic acid (Glu ) at this position, raising the possibility that this change may be tolerated. A dditional computational prediction tools suggest that the p.Ala9891Glu variant m ay not impact the protein, though this information is not predictive enough to r ule out pathogenicity. In summary, while the clinical significance of the p.Ala 9891Glu variant is uncertain, its frequency and lack of conservation suggest tha t it is more likely to be benign.
Genetic Services Laboratory, University of Chicago RCV000216585 SCV000597699 uncertain significance not specified 2016-03-23 criteria provided, single submitter clinical testing

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.