ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.581A>G (p.Tyr194Cys)

gnomAD frequency: 0.00004  dbSNP: rs1219814151
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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 RCV000621600 SCV000736936 uncertain significance Cardiovascular phenotype 2022-08-22 criteria provided, single submitter clinical testing The p.Y194C variant (also known as c.581A>G), located in coding exon 7 of the TXNRD2 gene, results from an A to G substitution at nucleotide position 581. The tyrosine at codon 194 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001775921 SCV002013589 uncertain significance not provided 2020-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 519041; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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