ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.431del (p.Leu144fs)

gnomAD frequency: 0.00001  dbSNP: rs1182353109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797748 SCV000937327 pathogenic Charcot-Marie-Tooth disease, type I 2020-11-26 criteria provided, single submitter clinical testing Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with Charcot-Marie-Tooth disease type 1 (PMID: 20516806). This sequence change creates a premature translational stop signal (p.Leu144Argfs*18) 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).
Inherited Neuropathy Consortium RCV000789477 SCV000928833 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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