ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12743A>C (p.Gln4248Pro)

gnomAD frequency: 0.00002  dbSNP: rs770583611
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 RCV000172418 SCV000055078 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172418 SCV000721163 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 23861362)
Ambry Genetics RCV002321685 SCV002628035 uncertain significance Cardiovascular phenotype 2018-05-29 criteria provided, single submitter clinical testing The p.Q3885P variant (also known as c.11654A>C), located in coding exon 44 of the TTN gene, results from an A to C substitution at nucleotide position 11654. The glutamine at codon 3885 is replaced by proline, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant (described as NM_133378.4:c.10361-2130A>C) in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is well 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.