ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)

gnomAD frequency: 0.00001  dbSNP: rs1222471099
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001990032 SCV002232657 pathogenic MEGF8-related Carpenter syndrome 2021-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with MEGF8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg419*) in the MEGF8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEGF8 are known to be pathogenic (PMID: 23063620).
Revvity Omics, Revvity RCV001990032 SCV003808777 uncertain significance MEGF8-related Carpenter syndrome 2021-10-01 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.