ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73636G>C (p.Asp24546His)

gnomAD frequency: 0.00002  dbSNP: rs1051495269
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539306 SCV000643641 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341348 SCV002639906 uncertain significance Cardiovascular phenotype 2020-06-12 criteria provided, single submitter clinical testing The p.D15481H variant (also known as c.46441G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 46441. The aspartic acid at codon 15481 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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.