ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His)

dbSNP: rs1388670551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982097 SCV002212234 uncertain significance Primary dilated cardiomyopathy 2021-08-07 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 418 of the TXNRD2 protein (p.Arg418His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions.
Ambry Genetics RCV002423089 SCV002676564 uncertain significance Cardiovascular phenotype 2021-11-14 criteria provided, single submitter clinical testing The p.R418H variant (also known as c.1253G>A), located in coding exon 14 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 1253. The arginine at codon 418 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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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