ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50244C>T (p.Thr16748=)

gnomAD frequency: 0.00001  dbSNP: rs778337707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV000217154 SCV000271034 likely benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Thr14180Thr in exon 215 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 4/66842 of Europ ean American chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV000980504 SCV001128459 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798702 SCV002042519 likely benign Cardiomyopathy 2020-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444860 SCV002734116 likely benign Cardiovascular phenotype 2021-12-03 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.

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.