Submissions for variant NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) (rs1553259790)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000638176	SCV000759662	pathogenic	Charcot-Marie-Tooth disease, type I	2020-01-02	criteria provided, single submitter	clinical testing	This sequence change replaces serine with phenylalanine at codon 51 of the MPZ protein (p.Ser51Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Charcot-Marie-Tooth disease (PMID: PMID: 11437164, 19293842, 23649551, 24819634) and has been reported to segregate with disease in several families (PMID: 11437164, 24819634). 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 and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium	RCV000789497	SCV000928853	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only

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