Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001337506 | SCV001531110 | uncertain significance | Primary dilated cardiomyopathy | 2022-03-19 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs758790391, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gln458Thrfs*45) in the TXNRD2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the TXNRD2 protein. This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1034740). |
| Ambry Genetics | RCV002384447 | SCV002697201 | uncertain significance | Cardiovascular phenotype | 2022-07-15 | criteria provided, single submitter | clinical testing | The c.1370dupC variant, located in coding exon 16 of the TXNRD2 gene, results from a duplication of C at nucleotide position 1370, causing a translational frameshift with a predicted alternate stop codon (p.Q458Tfs*45). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Fulgent Genetics, |
RCV002486348 | SCV002791983 | uncertain significance | Glucocorticoid deficiency 5 | 2021-10-28 | criteria provided, single submitter | clinical testing |