ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)

gnomAD frequency: 0.00005  dbSNP: rs371531675
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, Mass General Brigham Personalized Medicine RCV000040886 SCV000064577 uncertain significance not specified 2015-07-06 criteria provided, single submitter clinical testing The p.Arg30577Gln variant in TTN has been previously identified by our laborator y in 1 child with severe RVH and 1 child with DCM who also carried a likely path ogenic variant in this gene. It has been identified in 2/9788 African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs371531675). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg30577Gln variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000226662 SCV000286956 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725376 SCV000336463 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000725376 SCV001772409 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Revvity Omics, Revvity RCV000725376 SCV003826570 uncertain significance not provided 2022-01-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149663 SCV003838510 uncertain significance Cardiomyopathy 2021-10-21 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051744 SCV005685431 uncertain significance Hypertrophic cardiomyopathy 9 2024-10-17 criteria provided, single submitter clinical testing The TTN c.99434G>A (p.Arg33145Gln) variant, to our knowledge, has been reported in an individual with dilated cardiomyopathy (Pugh TJ et al., PMID: 24503780). The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.02% in the other populations. This variant was reported in the ClinVar database as a variant of uncertain significance by five submitters and likely benign by one submitter (ClinVar ID: 47617). Computational predictors indicate this variant has no impact on TTN function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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.