Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV006265547 | SCV007120025 | uncertain significance | not specified | 2025-09-02 | criteria provided, single submitter | clinical testing | Variant summary: EGR2 c.922_927dupGCCGCC (p.Ala308_Ala309dup) results in an in-frame duplication that is predicted to duplicate two amino acids into the encoded protein. The variant allele was found at a frequency of 6.2e-05 in 243670 control chromosomes. This frequency is not significantly higher than estimated for disease-causing variants in EGR2, allowing no conclusion about variant significance. c.922_927dupGCCGCC has been observed in individual(s) affected with EGR2-Related Disorders (example: Keller_2021). These report(s) do not provide unequivocal conclusions about association of the variant with EGR2-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 33600046). ClinVar contains an entry for this variant (Variation ID: 842568). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Department of Pathology and Laboratory Medicine, |
RCV006605315 | SCV006057126 | uncertain significance | Charcot-Marie-Tooth disease type 1D; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E | 2022-02-01 | criteria provided, single submitter | research | |
| Gene |
RCV002276600 | SCV002567695 | uncertain significance | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | Reported previously, as c.906_911dup, in the homozygous state as a variant of uncertain significance in an infant with severe infantile muscular atrophy (Keller et al., 2021); In-frame insertion of 2 amino acids in a repetitive region with no known function; This variant is associated with the following publications: (PMID: 33600046) |
| Labcorp Genetics |
RCV001045004 | SCV001208831 | uncertain significance | Charcot-Marie-Tooth disease, type I | 2025-11-27 | criteria provided, single submitter | clinical testing | This variant, c.922_927dup, results in the insertion of 2 amino acid(s) of the EGR2 protein (p.Ala308_Ala309dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753747037, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of autosomal recessive congenital hypomyelinating neuropathy (PMID: 33600046). ClinVar contains an entry for this variant (Variation ID: 842568). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |