ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) (rs1383238492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704394 SCV000833342 uncertain significance Charcot-Marie-Tooth disease, type I 2019-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 91 of the MPZ protein (p.Glu91Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MPZ-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV001173703 SCV001336817 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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