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, demyelinating, type 1b | 2015-08-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000704216 | SCV000833155 | pathogenic | Charcot-Marie-Tooth disease, type I | 2018-02-26 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glutamic acid at codon 90 of the MPZ protein (p.Asp90Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with Charcot-Marie-Tooth disease (CMT) and has been observed to segregate with disease in an affected family (PMID: 7693129, 20571287). It has also been reported to be de novo in an individual affected with hereditary motor and sensory neuropathy (PMID: 25694466). ClinVar contains an entry for this variant (Variation ID: 14167). Experimental studies have shown that this missense change results in decreased cellular aggregation in vitro (PMID: 25694466). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000015230 | SCV000035489 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, 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 |