Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053594 | SCV001217864 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-11-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 167 of the MPZ protein (p.Gly167Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Dejerine-Sottas disease (PMID: 7506095, 10399750, 12242557). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 208149). This variant is also known as p.Gly138Arg in the literature. This variant has been reported to affect MPZ protein function (PMID: 29687021). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000194294 | SCV000243906 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-03-26 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000789484 | SCV000928840 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |