ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1919G>A (rs370979792)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654167 SCV000776057 uncertain significance Charcot-Marie-Tooth disease type 4 2017-12-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 572 of the PRX protein (p.Val572Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs370979792, ExAC 0.002%). This variant has not been reported in the literature in individuals with PRX-related disease. 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 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 RCV001173748 SCV001336862 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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