ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3021C>G (rs761769929)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654143 SCV000776033 uncertain significance Charcot-Marie-Tooth disease type 4 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces serine with tryptophan at codon 939 of the PRX protein (p.Ser939Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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