ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041106 SCV001204702 likely pathogenic Charcot-Marie-Tooth disease, type I 2019-11-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MPZ gene (p.Glu234*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the MPZ protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MPZ-related conditions. This variant disrupts the p.Lys236 amino acid residue in MPZ. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12207932, 15716547, 29687021, 31173589). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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