Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000168060 | SCV000218714 | pathogenic | Charcot-Marie-Tooth disease, type I | 2022-09-19 | 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 PMP22 function (PMID: 10078969). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 8434). This missense change has been observed in individual(s) with Dejerine-Sottas neuropathy (PMID: 7728152). 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 histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 12 of the PMP22 protein (p.His12Gln). |
| Ambry Genetics | RCV000622783 | SCV000741249 | pathogenic | Inborn genetic diseases | 2016-01-27 | criteria provided, single submitter | clinical testing | |
| Centre for Mendelian Genomics, |
RCV001195890 | SCV001366314 | likely pathogenic | Roussy-Lévy syndrome | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP2,PP3. |
| OMIM | RCV000008949 | SCV000029159 | pathogenic | Dejerine-Sottas syndrome, autosomal dominant | 1995-01-01 | no assertion criteria provided | literature only | |
| Inherited Neuropathy Consortium | RCV000790177 | SCV000929568 | uncertain significance | Dejerine-Sottas disease | no assertion criteria provided | literature only |