ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)

gnomAD frequency: 0.00004  dbSNP: rs573007540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992319 SCV001144530 likely benign not provided 2018-08-23 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173704 SCV001336818 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869373 SCV002280751 uncertain significance Charcot-Marie-Tooth disease, type I 2024-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 71 of the MPZ protein (p.Glu71Lys). This variant is present in population databases (rs573007540, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792, 34060176). ClinVar contains an entry for this variant (Variation ID: 805017). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MPZ protein function with a negative predictive value of 80%. 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.

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