ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln)

gnomAD frequency: 0.00002  dbSNP: rs201377736
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172196 SCV000051113 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000620915 SCV000736621 uncertain significance Cardiovascular phenotype 2019-10-08 criteria provided, single submitter clinical testing The p.R21991Q variant (also known as c.65972G>A), located in coding exon 166 of the TTN gene, results from a G to A substitution at nucleotide position 65972. The arginine at codon 21991 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485103 SCV002776631 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 2021-09-03 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.