ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2042G>A (rs773222045)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200247 SCV000255224 uncertain significance Charcot-Marie-Tooth disease type 4 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 613 of the PRX protein (p.Val613Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs773222045, ExAC 0.03%). This variant has not been reported in the literature in individuals with PRX-related disease. ClinVar contains an entry for this variant (Variation ID: 216833). 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 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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