ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile)

gnomAD frequency: 0.00014  dbSNP: rs201658653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498114 SCV000589933 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with a TXNRD2-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 29420653)
Invitae RCV000793287 SCV000932635 uncertain significance Primary dilated cardiomyopathy 2022-04-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 87 of the TXNRD2 protein (p.Val87Ile). This variant is present in population databases (rs201658653, gnomAD 0.02%). 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: 432228). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002438207 SCV002745469 uncertain significance Cardiovascular phenotype 2022-03-28 criteria provided, single submitter clinical testing The p.V87I variant (also known as c.259G>A), located in coding exon 4 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 259. The valine at codon 87 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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