ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) (rs200162480)

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
Invitae RCV000232891 SCV000289537 uncertain significance Primary dilated cardiomyopathy 2016-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 441 (p.Arg441*). It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200162480, ExAC <0.01%) but has not been reported in the literature in individuals with a TXNRD2-related disease. ClinVar contains an entry for this variant (Variation ID: 155853). While this particular variant has not been reported in the literature, truncating variants in TXNRD2 are not necessarily pathogenic (PMID: 21247928), and the clinical significance of this variant is uncertain at this time. For these reasons, this has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000143975 SCV000188856 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-12-20 no assertion criteria provided clinical testing

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.