ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) (rs753107323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705857 SCV000834874 uncertain significance Charcot-Marie-Tooth disease, type I 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 183 of the MPZ protein (p.Trp183Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs753107323, ExAC 0.002%). 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 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174321 SCV001337456 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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