ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8482G>A (p.Ala2828Thr)

gnomAD frequency: 0.00006  dbSNP: rs777104401
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 RCV001767149 SCV001991021 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002449413 SCV002677608 uncertain significance Cardiovascular phenotype 2024-11-27 criteria provided, single submitter clinical testing The p.A2826T variant (also known as c.8476G>A), located in coding exon 24 of the TNXB gene, results from a G to A substitution at nucleotide position 8476. The alanine at codon 2826 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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.