ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)

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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 RCV002332029 SCV002627669 uncertain significance Cardiovascular phenotype 2021-09-26 criteria provided, single submitter clinical testing The p.R144L variant (also known as c.431G>T), located in coding exon 5 of the TXNRD2 gene, results from a G to T substitution at nucleotide position 431. The arginine at codon 144 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003120921 SCV003790423 uncertain significance Primary dilated cardiomyopathy 2022-07-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 144 of the TXNRD2 protein (p.Arg144Leu ).

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