ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98296G>T (p.Asp32766Tyr)

dbSNP: rs727504449
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 RCV000155418 SCV000205108 uncertain significance not specified 2012-10-02 criteria provided, single submitter clinical testing The Asp30198Tyr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, and PolyPhen2) suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the cli nical significance of this variant.
Ambry Genetics RCV000250572 SCV000318278 uncertain significance Cardiovascular phenotype 2013-02-07 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.

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.