ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.219G>A (p.Val73=)

dbSNP: rs1638568131
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
Breda Genetics srl RCV001723514 SCV001950191 uncertain significance Shprintzen-Goldberg syndrome 2021-02-18 criteria provided, single submitter clinical testing The variant is a synonymous change (which does not introduce changes in the amino acid sequence) that falls into exon 1 of the SKI gene. The variant c.219G>A (p.Val73Val) is not reported in the dbSNP, gnomAD, 1000 Genomes Project or ClinVar databases. In silico analysis indicates a possible alteration of ESE/ESS sequences present in the exon (HSF System). Although loss-of-function variants in the SKI gene are not reported in the literature as pathogenic, some ClinVar entries suggest that this possibility cannot be ruled out.

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.