Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000015230 | SCV000255798 | pathogenic | Charcot-Marie-Tooth disease type 1B | 2015-08-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000704216 | SCV000833155 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-01-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects MPZ function (PMID: 25694466). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MPZ protein function. ClinVar contains an entry for this variant (Variation ID: 14167). This missense change has been observed in individual(s) with hereditary motor and sensory neuropathy and Charcot-Marie-Tooth disease (CMT) (PMID: 7693129, 20571287, 25694466). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 90 of the MPZ protein (p.Asp90Glu). |
| OMIM | RCV000015230 | SCV000035489 | pathogenic | Charcot-Marie-Tooth disease type 1B | 1993-09-01 | no assertion criteria provided | literature only | |
| Inherited Neuropathy Consortium | RCV000789441 | SCV000928797 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |