ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) (rs756091180)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244956 SCV000319084 uncertain significance Cardiovascular phenotype 2013-11-13 criteria provided, single submitter clinical testing The p.R17435H variant (also known as c.52304G>A) is located in coding exon 251 of the TTN gene. This alteration results from a G to A substitution at nucleotide position 52304. The arginine at codon 17435 is replaced by histidine, an amino acid with some highly similar properties.​This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project.This amino acid position is highly conserved on sequence alignment.This variant is predicted to be probably damaging by PolyPhen in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.R17435H remains unclear.
Invitae RCV000642981 SCV000764668 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732232 SCV000860155 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000732232 SCV000981447 likely benign not provided 2018-05-15 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.

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.