ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*923C>T (rs199863083)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654121 SCV000776011 uncertain significance Charcot-Marie-Tooth disease type 4 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 240 of the PRX protein (p.Arg240Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. While this variant is present in population databases (rs199863083), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRX-related disease. ClinVar contains an entry for this variant (Variation ID: 543373). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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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