ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1])

dbSNP: rs766448975
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002019849 SCV002283033 uncertain significance Primary dilated cardiomyopathy 2023-10-23 criteria provided, single submitter clinical testing This variant, c.87_98del, results in the deletion of 4 amino acid(s) of the TXNRD2 protein (p.Ala30_Ala33del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766448975, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 1497519). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002370684 SCV002684609 uncertain significance Cardiovascular phenotype 2024-07-01 criteria provided, single submitter clinical testing The c.87_98del12 variant (also known as p.R31_A34del) is located in coding exon 1 of the TXNRD2 gene. This variant results from an in-frame deletion of 12 nucleotides at positions 87 to 98. This results in the deletion of 4 amino acids between codons 31 and 34. These amino acid positions are not well 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.
GeneDx RCV002625411 SCV003194786 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 4 amino acids in a repeat region; In silico analysis supports that this variant does not alter protein structure/function

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.