ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8950G>T (p.Asp2984Tyr)

dbSNP: rs2090998347
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
GeneDx RCV001762963 SCV001988991 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449408 SCV002682677 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.D2938Y variant (also known as c.8812G>T), located in coding exon 36 of the TTN gene, results from a G to T substitution at nucleotide position 8812. The aspartic acid at codon 2938 is replaced by tyrosine, an amino acid with highly dissimilar 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.