ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) (rs1060503418)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474970 SCV000552938 uncertain significance Charcot-Marie-Tooth disease, type I 2019-10-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 93 of the MPZ protein (p.Gly93Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a single family affected with Charcot-Marie-Tooth disease type 1B (PMID: 9217235). 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 rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000789446 SCV000928802 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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