Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002914897 | SCV003268852 | uncertain significance | Shprintzen-Goldberg syndrome | 2021-12-27 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.173_178dup, results in the insertion of 2 amino acid(s) of the SKI protein (p.Ala58_Ala59dup), but otherwise preserves the integrity of the reading frame. |