ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr)

gnomAD frequency: 0.00001  dbSNP: rs201620815
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 RCV000172207 SCV000054900 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001215021 SCV001386740 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 29827 of the TTN protein (p.Pro29827Thr). There is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs201620815, ExAC 0.2%). This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 191859). This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002362886 SCV002658488 uncertain significance Cardiovascular phenotype 2020-01-09 criteria provided, single submitter clinical testing The p.P20762T variant (also known as c.62284C>A), located in coding exon 161 of the TTN gene, results from a C to A substitution at nucleotide position 62284. The proline at codon 20762 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is well 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.

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.