ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1795A>G (p.Lys599Glu)

gnomAD frequency: 0.00001  dbSNP: rs761706108
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001939738 SCV002175730 uncertain significance Shprintzen-Goldberg syndrome 2021-06-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SKI-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SKI protein function. This variant is present in population databases (rs761706108, ExAC 0.01%). This sequence change replaces lysine with glutamic acid at codon 599 of the SKI protein (p.Lys599Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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.