ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.449+4C>T

gnomAD frequency: 0.00004  dbSNP: rs755751835
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
GeneDx RCV001721483 SCV000536167 likely benign not provided 2019-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329004 SCV002636753 uncertain significance Cardiovascular phenotype 2021-02-11 criteria provided, single submitter clinical testing The c.449+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 5 in the TXNRD2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003619681 SCV004557756 uncertain significance Primary dilated cardiomyopathy 2023-05-25 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs755751835, gnomAD 0.009%). ClinVar contains an entry for this variant (Variation ID: 392835). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This sequence change falls in intron 5 of the TXNRD2 gene. It does not directly change the encoded amino acid sequence of the TXNRD2 protein. It affects a nucleotide within the consensus splice site.

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.