ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) (rs139192633)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152504 SCV000201674 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Met1557Ile in exon 27 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 0.3% (12/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs139192633).
GeneDx RCV000152504 SCV000238001 likely benign not specified 2018-03-01 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 RCV000232506 SCV000286680 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152504 SCV000616090 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152504 SCV000701503 likely benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621269 SCV000736564 likely benign Cardiovascular phenotype 2018-10-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285164 SCV001471556 uncertain significance none provided 2019-08-02 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.