ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.469C>T (p.Arg157Ter)

dbSNP: rs1346573627
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 RCV003020279 SCV003328003 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg179*) in the RHOBTB2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RHOBTB2 cause disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of RHOBTB2-related conditions (PMID: 37165955). ClinVar contains an entry for this variant (Variation ID: 2110571). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV003020280 SCV003552819 uncertain significance Inborn genetic diseases 2022-08-06 criteria provided, single submitter clinical testing Loss of function has not been established as a mechanism of disease Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.