ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)

gnomAD frequency: 0.00001  dbSNP: rs727503682
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152484 SCV000201616 likely benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Arg3145Lys variant in TTN is classified as likely benign because it has been identified in 0.026% (8/30614) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
GeneDx RCV000152484 SCV000727547 likely benign not specified 2018-02-06 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 RCV002372003 SCV002684404 uncertain significance Cardiovascular phenotype 2020-01-10 criteria provided, single submitter clinical testing The p.R3099K variant (also known as c.9296G>A), located in coding exon 38 of the TTN gene, results from a G to A substitution at nucleotide position 9296. The arginine at codon 3099 is replaced by lysine, 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.

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.