Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003632790 | SCV004559399 | uncertain significance | Shprintzen-Goldberg syndrome | 2023-09-11 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the SKI gene. It does not directly change the encoded amino acid sequence of the SKI protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SKI-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |