ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)

gnomAD frequency: 0.00001  dbSNP: rs777650793
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243035 SCV000318880 uncertain significance Cardiovascular phenotype 2020-11-23 criteria provided, single submitter clinical testing The p.R16W variant (also known as c.46C>T), located in coding exon 1 of the TXNRD2 gene, results from a C to T substitution at nucleotide position 46. The arginine at codon 16 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available 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.
Fulgent Genetics, Fulgent Genetics RCV002494785 SCV002797634 uncertain significance Glucocorticoid deficiency 5 2021-08-13 criteria provided, single submitter clinical testing
Invitae RCV003509520 SCV004281437 uncertain significance Primary dilated cardiomyopathy 2022-11-06 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 263690). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. 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 sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 16 of the TXNRD2 protein (p.Arg16Trp).

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