ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu) (rs533384820)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152520 SCV000201707 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing The Ser755Leu variant in TTN has previously been identified by our laboratory in 1 Asian adult with HCM who also carried a pathogenic variant in another gene. I t was absent from large population studies. Computational prediction tools and c onservation analysis do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the Ser755Leu variant is un certain.
GeneDx RCV000152520 SCV000722738 likely benign not specified 2017-09-11 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 RCV000869244 SCV001010657 likely benign not provided 2018-08-06 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.