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 | 2019-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with glutamine at codon 12 of the PMP22 protein (p.His12Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This sequence change has been reported in the literature and is not present in population databases. Sequence analysis identified this missense change as de novo in a patient with Dejerine-Sottas syndrome, an early onset demyelinating motor and sensory neuropathy (PMID: 7728152). For these reasons, this sequence change has been classified as Pathogenic. |
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 |