ClinVar Miner

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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