ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.256T>C (p.Cys86Arg) (rs765676916)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697773 SCV000826402 uncertain significance Charcot-Marie-Tooth disease type 4 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 86 of the PRX protein (p.Cys86Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs765676916, ExAC 0.002%). This variant has not been reported in the literature in individuals with 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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