ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter)

dbSNP: rs2143988272
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001984921 SCV002212711 pathogenic Familial meningioma 2021-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln230*) in the SMARCE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCE1 are known to be pathogenic (PMID: 23377182). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as 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.