ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.736C>T (p.Gln246Ter)

dbSNP: rs1064796874
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.