ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28606C>A (p.Pro9536Thr)

gnomAD frequency: 0.00002  dbSNP: rs201121983
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172371 SCV000055038 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040081 SCV000063772 uncertain significance not specified 2012-11-05 criteria provided, single submitter clinical testing The Pro8292Thr variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/593 chr omosomes from the broad and racially unspecified ClinSeq population (dbSNP rs201 121983); however, this could be an asymptomatic individual. Computational analys es (biochemical amino acid properties, conservation, AlignGVGD, and PolyPhen2) s uggest that the Pro8292Thr variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. Additional informatio n is needed to fully assess the clinical significance of the Pro8292Thr variant.
GeneDx RCV000172371 SCV000238396 uncertain significance not provided 2025-03-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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.