ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)

gnomAD frequency: 0.00003  dbSNP: rs749633038
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
Ambry Genetics RCV000245395 SCV000320186 uncertain significance Cardiovascular phenotype 2020-01-07 criteria provided, single submitter clinical testing The p.R19261W variant (also known as c.57781C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 57781. The arginine at codon 19261 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000643817 SCV000765504 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764307 SCV000895326 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001092228 SCV001779116 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001092228 SCV005413016 uncertain significance not provided 2024-06-10 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.