Total submissions: 4
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. |
Gene |
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, |
RCV002488162 | SCV002793563 | uncertain significance | Glucocorticoid deficiency 5 | 2021-11-12 | criteria provided, single submitter | clinical testing |