ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1565C>T (p.Pro522Leu)

gnomAD frequency: 0.00001  dbSNP: rs1364653973
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 RCV004308623 SCV003972811 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-07 criteria provided, single submitter clinical testing The c.1565C>T (p.P522L) alteration is located in exon 5 (coding exon 5) of the SKI gene. This alteration results from a C to T substitution at nucleotide position 1565, causing the proline (P) at amino acid position 522 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration 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.