ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.742C>G (p.Leu248Val)

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
Ambry Genetics RCV005279428 SCV005943515 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-02-13 criteria provided, single submitter clinical testing The p.L248V variant (also known as c.742C>G), located in coding exon 1 of the SKI gene, results from a C to G substitution at nucleotide position 742. The leucine at codon 248 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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.