ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile)

gnomAD frequency: 0.00002  dbSNP: rs1060500591
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
Invitae RCV000457668 SCV000543158 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765544 SCV000896859 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 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365603 SCV002658556 uncertain significance Cardiovascular phenotype 2020-03-23 criteria provided, single submitter clinical testing The p.T21370I variant (also known as c.64109C>T), located in coding exon 163 of the TTN gene, results from a C to T substitution at nucleotide position 64109. The threonine at codon 21370 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.