ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) (rs121913583)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812845 SCV000953173 pathogenic Charcot-Marie-Tooth disease, type I 2019-02-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 96 of the MPZ protein (p.Lys96Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot-Marie-Tooth disease type 1B in a family (PMID: 7693129). ClinVar contains an entry for this variant (Variation ID: 14166). 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.
OMIM RCV000015229 SCV000035488 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 1994-01-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789440 SCV000928796 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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