Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000530903 | SCV000660421 | uncertain significance | Rett syndrome, congenital variant | 2018-10-04 | criteria provided, single submitter | clinical testing | In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FOXG1-related disease. This sequence change deletes 3 nucleotides from exon 1 of the FOXG1 mRNA (c.469_471delAAG). This leads to the deletion of 1 amino acid residuein the FOXG1 protein (p.Lys157del) but otherwise preserves the integrity of the reading frame. |