ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039423 SCV001202953 uncertain significance Charcot-Marie-Tooth disease type 4 2019-03-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1301 of the PRX protein (p.Gly1301Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs749251511, ExAC 0.008%). This variant has not been reported in the literature in individuals with PRX-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173951 SCV001337070 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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