ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.424-5A>G (rs752656697)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612346 SCV000713839 uncertain significance not specified 2018-01-17 criteria provided, single submitter clinical testing The c.424-5A>G variant in SPRED1 has not been previously reported in individuals with clinical features of RASopathy, but has been identified in 3/24030 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst; dbSNP rs752656697). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informat ion is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.424-5A>G variant is uncertain. ACMG/AMP Criteria applied: BP7.
Invitae RCV001456359 SCV001660137 likely benign Legius syndrome 2019-11-15 criteria provided, single submitter clinical testing

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.