ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del)

dbSNP: rs1292233616
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 RCV000643847 SCV000765534 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-22 criteria provided, single submitter clinical testing
GeneDx RCV002051872 SCV002319005 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion on 1 amino-acid in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23975875)
Revvity Omics, Revvity RCV002051872 SCV003821091 uncertain significance not provided 2019-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323655 SCV004029883 uncertain significance not specified 2023-07-17 criteria provided, single submitter clinical testing Variant summary: TTN c.32072_32074delCAC (p.Pro10691del) results in an in-frame deletion that is predicted to remove one amino acids from the I-band region of the encoded protein. The variant allele was found at a frequency of 8.5e-06 in 236178 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.32072_32074delCAC in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.