ClinVar Miner

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

dbSNP: 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 2017-11-08 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. 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 was reported in an individual who was referred for genetic testing for Charcot-Marie-Tooth disease (PMID: 25614874). This variant is not present in population databases (ExAC no frequency).
Inherited Neuropathy Consortium RCV000789717 SCV000929093 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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