ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1053T>G (rs776556523)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533429 SCV000658039 uncertain significance Charcot-Marie-Tooth disease type 4 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 283 of the PRX protein (p.Val283Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs776556523, ExAC 0.02%). This variant has not been reported in the literature in individuals with PRX-related disease. ClinVar contains an entry for this variant (Variation ID: 476983). 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 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.
Genesis Genome Database RCV000857062 SCV000999635 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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