ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.707del (p.Asn236fs) (rs777630688)

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
Invitae RCV001042886 SCV001206594 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn236Thrfs*11) in the RCBTB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777630688, ExAC 0.6%). This variant has been observed in individual(s) with Coats disease (PMID: 26908610). ClinVar contains an entry for this variant (Variation ID: 224622). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RCBTB1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital RCV000210228 SCV000266325 likely pathogenic Exudative retinopathy no assertion criteria provided research

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.