ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.407T>A (p.Val136Glu) (rs1571818744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060793 SCV001225504 uncertain significance Charcot-Marie-Tooth disease, type I 2019-01-30 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 136 of the MPZ protein (p.Val136Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Charcot-Marie-Tooth disease (PMID: 11835375). 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.
Inherited Neuropathy Consortium RCV000790054 SCV000929444 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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