ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg)

gnomAD frequency: 0.00007  dbSNP: rs753036867
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
Invitae RCV000460982 SCV000542872 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000609015 SCV000714589 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002446776 SCV002683278 uncertain significance Cardiovascular phenotype 2019-10-07 criteria provided, single submitter clinical testing The p.K3063R variant (also known as c.9188A>G), located in coding exon 38 of the TTN gene, results from an A to G substitution at nucleotide position 9188. The lysine at codon 3063 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other 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.