ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)

dbSNP: rs1553259697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513141 SCV000608501 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001060274 SCV001224951 pathogenic Charcot-Marie-Tooth disease, type I 2019-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). 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). This sequence change creates a premature translational stop signal (p.Glu91Leufs*14) in the MPZ gene. It is expected to result in an absent or disrupted protein product.

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