ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.486del (p.Ile162fs) (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 2019-12-17 criteria provided, single submitter clinical testing 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 acids of the MPZ protein and extend the protein by an additional 2 amino acids. 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: 25614874). ClinVar contains an entry for this variant (Variation ID: 625199). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the region of the MPZ protein between p.Arg98 and p.Ser233. This region has been determined to be associated with autosomal dominant MPZ-related conditions (PMID: 7688964, 15729519, 20461396), which suggests that variants that occur in this region are likely to be clinically significant. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790075 SCV000929465 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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