ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg)

gnomAD frequency: 0.00094  dbSNP: rs200238877
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040913 SCV000064604 likely benign not specified 2012-04-10 criteria provided, single submitter clinical testing Pro31411Arg in Exon 307 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (10/3216) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS;). Pro31411Arg in Exon 307 of TTN (allele frequency = 0.3%, 10/3216) **
Eurofins Ntd Llc (ga) RCV000040913 SCV000203663 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV001719776 SCV000237897 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983)
Invitae RCV000477135 SCV000555620 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390170 SCV002668875 likely benign Cardiovascular phenotype 2018-05-09 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.
PreventionGenetics, part of Exact Sciences RCV003974915 SCV004791538 likely benign TTN-related condition 2020-07-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.