ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)

gnomAD frequency: 0.00010  dbSNP: rs373979810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208059 SCV000264309 uncertain significance Cardiomyopathy 2015-07-02 criteria provided, single submitter clinical testing
Invitae RCV001036279 SCV001199634 uncertain significance Primary dilated cardiomyopathy 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 79 of the TXNRD2 protein (p.Arg79Gln). This variant is present in population databases (rs373979810, 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: 222882). 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.
GeneDx RCV001797066 SCV002038922 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002444837 SCV002735019 uncertain significance Cardiovascular phenotype 2022-01-21 criteria provided, single submitter clinical testing The p.R79Q variant (also known as c.236G>A), located in coding exon 4 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 236. The arginine at codon 79 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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