ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65647T>G (p.Leu21883Val)

dbSNP: rs754416903
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620712 SCV000735476 uncertain significance Cardiovascular phenotype 2016-07-31 criteria provided, single submitter clinical testing The p.L12818V variant (also known as c.38452T>G), located in coding exon 140 of the TTN gene, results from a T to G substitution at nucleotide position 38452. This alteration is located in the A-band region of the N2-B isoform of the titin protein. The leucine at codon 12818 is replaced by valine, an amino acid with highly similar properties. Based on data from ExAC, the G allele has an overall frequency of less than 0.01% (1/103222). 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.

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.