ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) (rs1571819084)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061577 SCV001226325 pathogenic Charcot-Marie-Tooth disease, type I 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 106 of the MPZ protein (p.Arg106Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease (CMT) and to segregate with CMT in a family (PMID: 22222859). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790114 SCV000929504 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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