ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.200_201del (p.Arg67fs)

dbSNP: rs1670284480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173694 SCV001336804 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001664729 SCV001880051 likely pathogenic not provided 2021-06-07 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Invitae RCV002558758 SCV003306526 pathogenic Charcot-Marie-Tooth disease, type I 2022-12-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 917144). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg67Leufs*23) 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).

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