Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001242559 | SCV001415654 | uncertain significance | Primary dilated cardiomyopathy | 2019-11-13 | criteria provided, single submitter | clinical testing | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TXNRD2-related conditions. This variant is present in population databases (rs746380381, ExAC 0.002%). This sequence change falls in intron 1 of the TXNRD2 gene. It does not directly change the encoded amino acid sequence of the TXNRD2 protein, but it affects a nucleotide within the consensus splice site of the intron. |
| Ambry Genetics | RCV004679037 | SCV005181894 | uncertain significance | Cardiovascular phenotype | 2024-04-08 | criteria provided, single submitter | clinical testing | The c.104-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 2 in the TXNRD2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |