ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385718 SCV002691422 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-01 criteria provided, single submitter clinical testing The p.R441Q variant (also known as c.1322G>A), located in coding exon 4 of the SKI gene, results from a G to A substitution at nucleotide position 1322. The arginine at codon 441 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003103645 SCV003263292 uncertain significance Shprintzen-Goldberg syndrome 2022-09-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 has not been reported in the literature in individuals affected with SKI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 441 of the SKI protein (p.Arg441Gln).
Mayo Clinic Laboratories, Mayo Clinic RCV003481297 SCV004227715 uncertain significance not provided 2023-04-06 criteria provided, single submitter clinical testing PM2_supporting

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.