ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)

dbSNP: rs200778464
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000040395 SCV000064086 likely benign not specified 2014-02-04 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance due to a lack of cons ervation across species, including mammals. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the p rotein.
Eurofins Ntd Llc (ga) RCV000729782 SCV000857471 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000729782 SCV001825842 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433521 SCV002753154 likely benign Cardiovascular phenotype 2020-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Revvity Omics, Revvity RCV000729782 SCV004237455 uncertain significance not provided 2023-03-29 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.