ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys)

gnomAD frequency: 0.00002  dbSNP: rs201943415
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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 RCV001056908 SCV001221373 uncertain significance Primary dilated cardiomyopathy 2021-10-18 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 852325). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is present in population databases (rs201943415, ExAC 0.02%). This sequence change replaces arginine with cysteine at codon 512 of the TXNRD2 protein (p.Arg512Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
GeneDx RCV001776113 SCV002013601 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV003160458 SCV003912771 uncertain significance Cardiovascular phenotype 2022-12-08 criteria provided, single submitter clinical testing The p.R512C variant (also known as c.1534C>T), located in coding exon 17 of the TXNRD2 gene, results from a C to T substitution at nucleotide position 1534. The arginine at codon 512 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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