ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val)

gnomAD frequency: 0.00003  dbSNP: rs766003250
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, Mass General Brigham Personalized Medicine RCV000215814 SCV000271008 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing p.Leu9430Val in exon 122 of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, >10 mammals (including 1 primate) have a valine (Val) at this position des pite high nearby amino acid conservation. It has been identified in 0.1% (11/862 0) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org).
Invitae RCV000463757 SCV000542506 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137806 SCV003824145 likely benign not provided 2023-05-03 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.