Submissions for variant NM_000530.8(MPZ):c.172G>T (p.Val58Phe) (rs1341175303)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000638174	SCV000759660	uncertain significance	Charcot-Marie-Tooth disease, type I	2017-12-14	criteria provided, single submitter	clinical testing	This sequence change replaces valine with phenylalanine at codon 58 of the MPZ protein (p.Val58Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease, type 1 (PMID: 9452099). 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: "Possibly 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.
Inherited Neuropathy Consortium	RCV000789480	SCV000928836	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only

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