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 Inc 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
Invitae RCV001869373 SCV002280751 uncertain significance Charcot-Marie-Tooth disease, type I 2022-09-06 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 805017). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). This variant is present in population databases (rs573007540, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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).

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