Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647958 | SCV000769768 | uncertain significance | Intellectual disability, X-linked 1 | 2018-01-10 | criteria provided, single submitter | clinical testing | This variant, c.1436_1603del, results in the deletion of 56 amino acids and inserts 1 amino acid in to the IQSEC2 protein (p.Leu479_Thr535delinsPro), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. This variant has not been reported in the literature in individuals with IQSEC2-related disease. This variant is not present in population databases (ExAC no frequency). |