ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*4571G>C (rs149093940)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654151 SCV000776041 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1456 of the PRX protein (p.Ala1456Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs149093940, ExAC 0.09%). 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: "Tolerated"; 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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