ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys)

gnomAD frequency: 0.00019  dbSNP: rs200942544
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
Invitae RCV000538026 SCV000623492 uncertain significance Primary dilated cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 74 of the TXNRD2 protein (p.Ser74Cys). This variant is present in population databases (rs200942544, gnomAD 0.02%). 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: 454284). 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 disruptive. 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 RCV001584240 SCV001819901 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002431507 SCV002729670 uncertain significance Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The p.S74C variant (also known as c.221C>G), located in coding exon 3 of the TXNRD2 gene, results from a C to G substitution at nucleotide position 221. The serine at codon 74 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is 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.