ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) (rs727503538)

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,Partners HealthCare Personalized Medicine RCV000152169 SCV000200894 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing The Met30388Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of this variant is unce rtain.
Invitae RCV000462130 SCV000542383 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620518 SCV000735264 likely benign Cardiovascular phenotype 2020-03-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Fulgent Genetics,Fulgent Genetics RCV000764303 SCV000895322 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000152169 SCV001160291 uncertain significance not specified 2019-03-01 criteria provided, single submitter clinical testing The TTN c.91162A>G; p.Met30388Val variant (rs727503538; ClinVar Variation ID: 165678) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Met30388Val variant cannot be determined with certainty.

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.