ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys)

gnomAD frequency: 0.00004  dbSNP: rs1259706318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519526 SCV000620304 uncertain significance not provided 2024-09-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001853662 SCV002262313 uncertain significance Primary dilated cardiomyopathy 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 14 of the TXNRD2 protein (p.Arg14Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 451583). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002323890 SCV002631429 uncertain significance Cardiovascular phenotype 2022-05-09 criteria provided, single submitter clinical testing The p.R14C variant (also known as c.40C>T), located in coding exon 1 of the TXNRD2 gene, results from a C to T substitution at nucleotide position 40. The arginine at codon 14 is replaced by cysteine, an amino acid with highly dissimilar 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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