Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000805177 | SCV000945124 | uncertain significance | Primary dilated cardiomyopathy | 2023-08-11 | criteria provided, single submitter | clinical testing | This variant, c.90_101dup, results in the insertion of 4 amino acid(s) to the TXNRD2 protein (p.Arg31_Ala34dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 650091). 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 | RCV002370139 | SCV002687991 | uncertain significance | Cardiovascular phenotype | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.90_101dup12 variant (also known as p.R31_A34dup), located in coding exon 1 of the TXNRD2 gene, results from an in-frame duplication of 12 nucleotides at nucleotide positions 90 to 101. This results in the duplication of 4 extra residues (RGAA) between codons 31 and 34. 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. |