ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1818T>C (rs765791679)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557073 SCV000657995 uncertain significance Charcot-Marie-Tooth disease type 4 2017-04-20 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 538 of the PRX protein (p.Val538Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PRX-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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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