ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349976 SCV001544346 uncertain significance Primary dilated cardiomyopathy 2020-07-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 221 of the TXNRD2 protein (p.Thr221Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs188258380, ExAC 0.06%). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
GeneDx RCV001575213 SCV001802162 uncertain significance not provided 2020-01-15 no assertion criteria provided 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

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