Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Raymond Lab, |
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 |