ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.486del (p.Ile162fs)

dbSNP: rs1571818248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Raymond Lab, University of Cambridge RCV000850194 SCV000897731 likely pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Invitae RCV001040610 SCV001204194 pathogenic Charcot-Marie-Tooth disease, type I 2022-11-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the region of the MPZ protein between p.Arg98 and p.Ser233. Other variants in this region have been observed in individuals with autosomal dominant MPZ-related conditions (PMID: 7688964, 15729519, 20461396), which suggests that this may be a clinically significant region of the protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 625199). This frameshift has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 25614874). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the MPZ gene (p.Ile162Metfs*90). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acid(s) of the MPZ protein and extend the protein by 2 additional amino acid residues.
Inherited Neuropathy Consortium RCV000790075 SCV000929465 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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