ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp)

gnomAD frequency: 0.00002  dbSNP: rs200981451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049419 SCV001213468 uncertain significance Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 283 of the TXNRD2 protein (p.Arg283Trp). This variant is present in population databases (rs200981451, 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: 846179). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TXNRD2 protein function with a negative predictive value of 80%. 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 RCV002445260 SCV002681588 uncertain significance Cardiovascular phenotype 2020-12-15 criteria provided, single submitter clinical testing The p.R283W variant (also known as c.847C>T), located in coding exon 11 of the TXNRD2 gene, results from a C to T substitution at nucleotide position 847. The arginine at codon 283 is replaced by tryptophan, an amino acid with dissimilar 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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