ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001370439 SCV001566927 uncertain significance Primary dilated cardiomyopathy 2020-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 41 of the TXNRD2 protein (p.Arg14Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TXNRD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV001561839 SCV001784509 uncertain significance not provided 2019-08-01 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 that this variant does not alter protein structure/function

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