ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4463G>T (p.Ser1488Ile)

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
Fulgent Genetics, Fulgent Genetics RCV005021940 SCV005643873 uncertain significance Smith-Magenis syndrome 2024-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003404446 SCV004104362 uncertain significance RAI1-related disorder 2024-05-02 no assertion criteria provided clinical testing The RAI1 c.4463G>T variant is predicted to result in the amino acid substitution p.Ser1488Ile. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.