ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)

dbSNP: rs762410895
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623766 SCV000741001 uncertain significance Inborn genetic diseases 2015-08-03 criteria provided, single submitter clinical testing
Invitae RCV000813287 SCV000953643 uncertain significance Shprintzen-Goldberg syndrome 2022-06-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 520744). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is present in population databases (rs762410895, gnomAD 0.004%). This variant, c.1445_1450del, results in the deletion of 2 amino acid(s) of the SKI protein (p.Ala482_Glu483del), but otherwise preserves the integrity of the reading frame.

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.