ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)

gnomAD frequency: 0.00016  dbSNP: rs199646089
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000547535 SCV000643716 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594551 SCV000702066 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341356 SCV002644982 likely benign Cardiovascular phenotype 2019-08-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002476171 SCV002776652 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-12-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330778 SCV004038652 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735608 SCV005349313 uncertain significance TTN-related disorder 2024-07-15 no assertion criteria provided clinical testing The TTN c.78914C>G variant is predicted to result in the amino acid substitution p.Ser26305Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.079% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.