ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.431G>A (p.Arg144His)

dbSNP: rs748674090
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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 RCV000249013 SCV000318249 uncertain significance Cardiovascular phenotype 2013-02-13 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV001308093 SCV001497528 uncertain significance Primary dilated cardiomyopathy 2020-08-19 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"). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 263503). This variant is present in population databases (rs748674090, ExAC 0.04%). This sequence change replaces arginine with histidine at codon 144 of the TXNRD2 protein (p.Arg144His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
GeneDx RCV001551334 SCV001771816 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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