ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147974 SCV003835486 likely pathogenic Hypertrophic cardiomyopathy 9 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147977 SCV003835497 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147979 SCV003835498 likely pathogenic Early-onset myopathy with fatal cardiomyopathy 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147975 SCV003835512 likely pathogenic Dilated cardiomyopathy 1G 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147978 SCV003835531 likely pathogenic Myopathy, myofibrillar, 9, with early respiratory failure 2022-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147976 SCV003836485 likely pathogenic Tibial muscular dystrophy 2022-09-12 criteria provided, single submitter clinical testing
GeneDx RCV004763602 SCV005372182 likely pathogenic not provided 2023-08-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22335739)

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.