ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln) (rs777384922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618225 SCV000737212 uncertain significance Cardiovascular phenotype 2016-12-09 criteria provided, single submitter clinical testing The p.R38Q variant (also known as c.113G>A), located in coding exon 2 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 113. The arginine at codon 38 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and glutamine is the reference amino acid in other 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.
Invitae RCV000628816 SCV000749723 uncertain significance Primary dilated cardiomyopathy 2017-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 38 of the TXNRD2 protein (p.Arg38Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs777384922, ExAC 0.07%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with TXNRD2-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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