ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys)

gnomAD frequency: 0.00001  dbSNP: rs774339883
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
Invitae RCV000642987 SCV000764674 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731450 SCV000859268 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000731450 SCV002013294 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing Reported in association with dilated cardiomyopathy; however, clinical details were not provided (Mazzarotto et al., 2020); Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 31983221, 26582918)
Ambry Genetics RCV002406398 SCV002722328 uncertain significance Cardiovascular phenotype 2019-07-15 criteria provided, single submitter clinical testing The p.E6241K variant (also known as c.18721G>A), located in coding exon 75 of the TTN gene, results from a G to A substitution at nucleotide position 18721. The glutamic acid at codon 6241 is replaced by lysine, an amino acid with similar properties. This amino acid position is well 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.