ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg)

dbSNP: rs528059873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226790 SCV001399116 uncertain significance Primary dilated cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs528059873, gnomAD 0.02%). 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: 954346). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 385 of the TXNRD2 protein (p.Gly385Arg).
GeneDx RCV001568952 SCV001792915 uncertain significance not provided 2021-08-26 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; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 954346; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV002348763 SCV002623373 uncertain significance Cardiovascular phenotype 2021-05-24 criteria provided, single submitter clinical testing The p.G385R variant (also known as c.1153G>A), located in coding exon 13 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 1153. The glycine at codon 385 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly 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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