ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*4376C>T (rs369072136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549128 SCV000658026 uncertain significance Charcot-Marie-Tooth disease type 4 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1391 of the PRX protein (p.Arg1391Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs369072136, ExAC 0.02%). This variant 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on PRX function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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