ClinVar Miner

Submissions for variant NM_021975.4(RELA):c.736C>T (p.Arg246Ter)

dbSNP: rs1565190345
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 RCV000754618 SCV002232069 pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 617486). This premature translational stop signal has been observed in individual(s) with RELA-related condition(s) (PMID: 29305315). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg246*) in the RELA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RELA are known to be pathogenic (PMID: 28600438).
OMIM RCV000754618 SCV000882535 uncertain significance not provided 2019-01-28 no assertion criteria provided literature only

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.