Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187477 | SCV000241070 | uncertain significance | not specified | 2013-10-01 | criteria provided, single submitter | clinical testing | c.327_332dupGCCACC: p.Pro111_Pro112dup (P111_P112dup) in exon 1 of the FOXG1 gene (NM_005249.3). The normal sequence with the bases that are duplicated in braces is: CACC{GCCACC}ACCG. The c.327_332dupGCCACC variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame duplication of two amino acids. To our knowledge, in frame duplications have not been previously reported in association with epilepsy. Therefore, based on the currently available information, it is unclear whether c.327_332dupGCCACC is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s). |
Labcorp Genetics |
RCV001857611 | SCV002116089 | uncertain significance | Rett syndrome, congenital variant | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant, c.327_332dup, results in the insertion of 2 amino acid(s) of the FOXG1 protein (p.Pro111_Pro112dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. 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. |