ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)

dbSNP: rs1571819906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536919 SCV003523260 pathogenic Charcot-Marie-Tooth disease, type I 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr68*) in the MPZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 637508). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789716 SCV000929092 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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