ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)

dbSNP: rs2146120283
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001370439 SCV001566927 uncertain significance Primary dilated cardiomyopathy 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 14 of the TXNRD2 protein (p.Arg14Leu). This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1060940). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001561839 SCV001784509 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002322351 SCV002630608 uncertain significance Cardiovascular phenotype 2022-11-21 criteria provided, single submitter clinical testing The c.41_42delGCinsTT variant (also known as p.R14L), located in coding exon 1 of the TXNRD2 gene, results from an in-frame deletion of GC and insertion of TT at nucleotide positions 41 to 42. This results in the substitution of the arginine residue for a leucine residue at codon 14, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV002488162 SCV002793563 uncertain significance Glucocorticoid deficiency 5 2021-11-12 criteria provided, single submitter 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.