ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.130_137del (p.Ser44fs) (rs1571820186)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044115 SCV001207892 pathogenic Charcot-Marie-Tooth disease, type I 2020-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser44Aspfs*10) 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 has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 22622165). This variant is also known as c.160_167delTCCCGGGT in the literature. ClinVar contains an entry for this variant (Variation ID: 637764). Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001507502 SCV001713095 likely pathogenic not provided 2021-03-02 criteria provided, single submitter clinical testing PVS1, PM2
Inherited Neuropathy Consortium RCV000790065 SCV000929455 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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