ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) (rs1553259683)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638154 SCV000759640 pathogenic Charcot-Marie-Tooth disease, type I 2017-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln100*) in the MPZ gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with Charcot-Marie-Tooth disease (CMT) (PMID: 19259128). Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789465 SCV000928821 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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