ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys)

gnomAD frequency: 0.00001  dbSNP: rs755356370
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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 RCV001338427 SCV001532093 uncertain significance Primary dilated cardiomyopathy 2023-07-31 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1035547). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs755356370, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 150 of the TXNRD2 protein (p.Arg150Lys). This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon.
Ambry Genetics RCV002329306 SCV002637584 uncertain significance Cardiovascular phenotype 2023-07-10 criteria provided, single submitter clinical testing The c.449G>A variant (also known as p.R150K), located in coding exon 5 of the TXNRD2 gene, results from a G to A substitution at nucleotide position 449. The amino acid change results in arginine to lysine at codon 150, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, lysine is the reference amino acid in other 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.
GeneDx RCV003442857 SCV004168265 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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