Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000806317 | SCV000946307 | uncertain significance | Rett syndrome, congenital variant | 2018-08-03 | criteria provided, single submitter | clinical testing | While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.314_318delinsAGCCGCCGCCA, results in the insertion of 2 amino acids to the FOXG1 protein (p.Leu104_Pro105insGlnPro), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with FOXG1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids 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. |