ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)

dbSNP: rs1670224976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041106 SCV001204702 pathogenic Charcot-Marie-Tooth disease, type I 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MPZ protein in which other variant(s) (p.Lys236del) have been determined to be pathogenic (PMID: 12207932, 15716547, 29687021, 31173589). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 839368). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu234*) in the MPZ gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the MPZ protein.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001805988 SCV002051596 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing PM2

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