Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV004727009 | SCV005332367 | uncertain significance | not provided | 2024-03-06 | criteria provided, single submitter | clinical testing | Observed in apparent homozygous state in a patient with severe infantile muscular atrophy in the literature (PMID: 33600046); In-frame duplication of 2 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33600046) |
| Institute of Human Genetics, |
RCV001263156 | SCV001441239 | uncertain significance | Charcot-Marie-Tooth disease type 4E | 2020-09-30 | criteria provided, single submitter | research | |
| Labcorp Genetics |
RCV001228727 | SCV001401142 | uncertain significance | Charcot-Marie-Tooth disease, type I | 2025-02-04 | criteria provided, single submitter | clinical testing | This variant, c.906_911dup, 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 (no rsID available, gnomAD 0.001%). This variant has been observed in individual(s) with autosomal recessive severe infantile muscular atrophy (PMID: 33600046). ClinVar contains an entry for this variant (Variation ID: 955998). 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. |