ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn)

gnomAD frequency: 0.00012  dbSNP: rs201531690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220811 SCV001392823 uncertain significance Primary dilated cardiomyopathy 2023-04-06 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. 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. ClinVar contains an entry for this variant (Variation ID: 949366). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs201531690, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 208 of the TXNRD2 protein (p.Ser208Asn).
GeneDx RCV001549458 SCV001769613 uncertain significance not provided 2023-09-07 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 has a deleterious effect on protein structure/function
Ambry Genetics RCV002365997 SCV002656398 uncertain significance Cardiovascular phenotype 2023-02-08 criteria provided, single submitter clinical testing The p.S208N variant (also known as c.623G>A), located in coding exon 8 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 623. The serine at codon 208 is replaced by asparagine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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