Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049422 | SCV001213471 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-03-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 409 of the EGR2 protein (p.Arg409Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease (CMT) and to segregate with CMT in a family (PMID: 9537424, 30481651). ClinVar contains an entry for this variant (Variation ID: 16750). This variant has been reported to affect EGR2 protein function (PMID: 10369870, 26204789, 27013732). This variant disrupts the p.Arg409 amino acid residue in EGR2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26204789, Invitae). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000018234 | SCV000038513 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1d | 2003-01-14 | no assertion criteria provided | literature only | |
Gene |
RCV000018234 | SCV000055672 | pathologic | Charcot-Marie-Tooth disease, demyelinating, type 1d | 2012-10-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |