ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.333_336del (p.Ile112fs)

dbSNP: rs1670264356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036759 SCV001200139 pathogenic Charcot-Marie-Tooth disease, type I 2019-12-23 criteria provided, single submitter clinical testing Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ile112Serfs*5) in the MPZ gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MPZ-related conditions. This variant is not present in population databases (ExAC no frequency).

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