ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) (rs750519430)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000337217 SCV000345318 likely pathogenic not provided 2016-09-05 criteria provided, single submitter clinical testing
Invitae RCV000558960 SCV000639028 likely pathogenic Limb-girdle muscular dystrophy, type 2J 2017-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 34805 (p.Arg34805*) of the TTN gene. It is expected to result in a disrupted protein product. This variant is found in the M-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the M-band of TTN have been previously reported in patients affected with recessive forms of myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473). Heterozygous truncating variants in the M-band of this gene are not currently associated with cardiovascular manifestations. ClinVar contains an entry for this variant (Variation ID: 290707). For these reasons, this variant has been classified as Likely Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000337217 SCV001371165 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV001377610 SCV001574990 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 34805 (p.Arg34805*) of the TTN gene. It is expected to result in a disrupted protein product. This variant is found in the M-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the M-band of TTN have been previously reported in patients affected with recessive forms of myopathy and muscular dystrophy (PMID: 18948003, 23975875, 24395473). Heterozygous truncating variants in the M-band of this gene are not currently associated with cardiovascular manifestations. ClinVar contains an entry for this variant (Variation ID: 290707). For these reasons, this variant has been classified as Likely Pathogenic.

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.