ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.673G>T (p.Val225Leu) (rs397516479)

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,Partners HealthCare Personalized Medicine RCV000036610 SCV000060265 uncertain significance not specified 2013-09-13 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201894 SCV000256660 uncertain significance Familial hypertrophic cardiomyopathy 1 2015-06-04 criteria provided, single submitter research This TNNT2 Val225Leu variant is rare, with an allele frequency of 0.00003 (http://exac.broadinstitute.org/). In silico tools predict the variant to be benign (SIFT, Polyphen2, MutationTaster) and there are no other reports in the literature. We have identified this variant in a male patient with HCM (max LVH= 27mm) and no family history of disease. There is limited evidence to suggest a causative role for this variant, therefore we have classified it as a variant of "uncertain significance".

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.