ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)

gnomAD frequency: 0.00007  dbSNP: rs759406486
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
Eurofins Ntd Llc (ga) RCV000175505 SCV000226992 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399634 SCV002711296 uncertain significance Cardiovascular phenotype 2020-01-17 criteria provided, single submitter clinical testing The p.T5798M variant (also known as c.17393C>T), located in coding exon 69 of the TTN gene, results from a C to T substitution at nucleotide position 17393. The threonine at codon 5798 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002505252 SCV002797030 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000175505 SCV003827278 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000175505 SCV001742245 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000175505 SCV001917994 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000175505 SCV001972110 uncertain significance not provided no assertion criteria provided 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.