ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.196T>C (p.Trp66Arg)

dbSNP: rs1060503421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461805 SCV000552945 uncertain significance Charcot-Marie-Tooth disease, type I 2016-12-25 criteria provided, single submitter clinical testing 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MPZ-related disease. This sequence change replaces tryptophan with arginine at codon 66 of the MPZ protein (p.Trp66Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.

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