ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) (rs1553259703)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535579 SCV000636241 pathogenic Charcot-Marie-Tooth disease, type I 2017-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln86*) 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 was reported in an individual who was referred for genetic testing for Charcot-Marie-Tooth disease (PMID: 25614874). 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 RCV000789717 SCV000929093 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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