ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)

dbSNP: rs754068936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000195798 SCV000255413 likely pathogenic Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E 2013-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000805947 SCV000945923 uncertain significance Charcot-Marie-Tooth disease, type I 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 151 of the MPZ protein (p.Pro151Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25326637). ClinVar contains an entry for this variant (Variation ID: 216963). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001762424 SCV001998322 uncertain significance not provided 2019-09-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Identified in a patient with Charcot-Marie-Tooth neuropathy, foot drop, gait abnormality, muscle weakness, and fasciculation in the published literature; however, information regarding parental testing was not available (Lee et al., 2014); This variant is associated with the following publications: (PMID: 25326637)

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