ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)

dbSNP: rs561618839
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463168 SCV000542529 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619319 SCV000736557 likely benign Cardiovascular phenotype 2021-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV001509189 SCV001715767 uncertain significance not provided 2021-09-29 criteria provided, single submitter clinical testing
GeneDx RCV001509189 SCV001817711 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001509189 SCV003826714 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479122 SCV004223620 uncertain significance not specified 2023-11-09 criteria provided, single submitter clinical testing Variant summary: TTN c.40674_40676delATT (p.Leu13558del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 6.4e-05 in 248198 control chromosomes (gnomAD). To our knowledge, no occurrence of c.40674_40676delATT in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign (n=2) and VUS (n=3). 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.