Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514144 | SCV003441431 | pathogenic | Charcot-Marie-Tooth disease, type I | 2022-06-10 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Arg359 amino acid residue in EGR2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10369870, 10371530, 11523566, 15947997, 17717711, 27159987). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 359 of the EGR2 protein (p.Arg359Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hereditary motor and sensory neuropathy (PMID: 16198564). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 41007). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000033900 | SCV000057814 | not provided | Charcot-Marie-Tooth disease type 1D | no assertion provided | literature only | ||
Inherited Neuropathy Consortium | RCV000789743 | SCV000929121 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV000033900 | SCV004174367 | uncertain significance | Charcot-Marie-Tooth disease type 1D | 2016-01-06 | no assertion criteria provided | literature only |