ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*4343C>T (rs771840476)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534630 SCV000658025 uncertain significance Charcot-Marie-Tooth disease type 4 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1380 of the PRX protein (p.Arg1380Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs771840476, ExAC 0.006%). This variant has been reported in an individual affected with chemotherapy-induced peripheral neuropathy (PMID: 25164601). 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 C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000790183 SCV001336156 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790183 SCV000929574 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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