ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)

gnomAD frequency: 0.00001  dbSNP: rs371678936
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
Eurofins Ntd Llc (ga) RCV000725392 SCV000336581 uncertain significance not provided 2015-10-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000283983 SCV000710939 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gly27093Gly in exon 282 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue nor is it located within the splice consensus sequence. It has been identified in 4/125304 Europea n chromosomes by the Genome Aggregation Database (qnomAD; http://gnomad.broadins titute.org/; dbSNP rs371678936).
GeneDx RCV000725392 SCV000730425 likely benign not provided 2019-01-11 criteria provided, single submitter clinical testing
Invitae RCV001078767 SCV000765495 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356378 SCV002656833 likely benign Cardiovascular phenotype 2020-05-28 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486803 SCV004240157 likely benign Cardiomyopathy 2022-08-31 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.