ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47761-4G>A (rs564918195)

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
Ambry Genetics RCV000618004 SCV000735858 uncertain significance Cardiovascular phenotype 2019-02-27 criteria provided, single submitter clinical testing The c.20566-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 82 in the TTN gene. This nucleotide position is poorly conserved in available vertebrate species, and A is the reference nucleotide in other vertebrate species. In addition, this alteration is not predicted to have a significant effect on splicing by the BDGP and ESEfinder in silico splicing models; however experimental evidence is not currently available. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000867887 SCV001009158 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Invitae RCV001484587 SCV001689006 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-03-26 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.