Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000464045 | SCV000552942 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-09-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 217235). This missense change has been observed in individuals with Charcot-Marie-Tooth disease, type 1B (PMID: 7694726, 26454100; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 30 of the MPZ protein (p.Ile30Met). |
| Athena Diagnostics Inc | RCV000712322 | SCV000842788 | pathogenic | not provided | 2015-06-17 | criteria provided, single submitter | clinical testing | |
| Inherited Neuropathy Consortium | RCV000789438 | SCV000928793 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |