Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV003632982 | SCV004563751 | uncertain significance | Shprintzen-Goldberg syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | The SKI c.1474+8_1474+9del variant (rs1569860802), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This is an intronic variant, and computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant may impact splicing by strengthening a cryptic donor splice site and weakening the nearby canonical donor splice site. However, without functional studies the effect on splicing is unknown. Additionally, loss-of-function is not an established mechanism of disease for variants in the SKI gene. Due to limited information, the clinical significance of this variant is uncertain at this time. |