Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484316 | SCV000574033 | uncertain significance | not provided | 2017-03-13 | criteria provided, single submitter | clinical testing | The Q246X variant in the SKI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q246X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although loss-of-function variants have not been report in the Human Gene Mutation Database in association with Shprintzen-Goldberg syndrome (Stenson et al., 2014), a de novo loss-of-function variant in the SKI gene has been observed in an individual referred for whole exome sequencing at GeneDx with clinical features consistent with Shprintzen-Goldberg syndrome. We interpret Q246X as a variant of uncertain significance. |