ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)

dbSNP: rs797044941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV000789474 SCV001739482 likely pathogenic Dejerine-Sottas disease 2020-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536917 SCV003523891 pathogenic Charcot-Marie-Tooth disease, type I 2022-06-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 127 of the MPZ protein (p.Cys127Tyr). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys127 amino acid residue in MPZ. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 33825325; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 637350). This variant is also known as Cys98Tyr. This missense change has been observed in individual(s) with Déjérine-Sottas syndrome and/or MPZ-related conditions (PMID: 9888385, 10084540, 34539730). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).
Inherited Neuropathy Consortium RCV000789474 SCV000928830 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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