ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)

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
Invitae RCV001059001 SCV001223604 likely pathogenic Legius syndrome 2019-01-15 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SPRED1 mRNA. The next in-frame methionine is located at codon 22. This variant is not present in population databases (ExAC no frequency). Disruption of the initiator codon has been observed to segregate with clinical features of Legius syndrome in a family (PMID: 19366998). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.