ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45980G>A (p.Arg15327His)

gnomAD frequency: 0.00006  dbSNP: rs374697274
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245079 SCV000319854 uncertain significance Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing The p.R6262H variant (also known as c.18785G>A), located in coding exon 75 of the TTN gene, results from a G to A substitution at nucleotide position 18785. The arginine at codon 6262 is replaced by histidine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs374697274. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/12080) total alleles studied and 0.01% (1/8242) European American alleles. 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 for this variant is limited at this time, its clinical significance is unclear.
CeGaT Center for Human Genetics Tuebingen RCV000513314 SCV000609000 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing

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.