Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003516837 | SCV004308391 | uncertain significance | Shprintzen-Goldberg syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1966_1967ins66, is a complex sequence change that results in the deletion of 1 and insertion of 23 amino acid(s) in the SKI protein (p.Ala656delins23). |