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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