ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104995C>T (p.Leu34999=)

dbSNP: rs727503532
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152159 SCV000200871 likely benign not specified 2013-05-03 criteria provided, single submitter clinical testing Leu32431Leu in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Leu32431Leu in exon 307 of TTN (allele freq uency = n/a)
Invitae RCV000924151 SCV001069657 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001545790 SCV001765185 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408675 SCV002674701 likely benign Cardiovascular phenotype 2019-08-01 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.

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.