ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) (rs756559860)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558828 SCV000623488 uncertain significance Primary dilated cardiomyopathy 2017-03-16 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 479 of the TXNRD2 protein (p.Leu479Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs756559860, ExAC 0.003%) but has not been reported in the literature in individuals with a TXNRD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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