ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.935G>T (p.Gly312Val)

dbSNP: rs1414103849
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 RCV002022943 SCV002297895 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 334 of the RHOBTB2 protein (p.Gly334Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RHOBTB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1512261). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Illumina Laboratory Services, Illumina RCV003408087 SCV004123261 uncertain significance Developmental and epileptic encephalopathy, 64 2023-08-02 criteria provided, single submitter clinical testing The RHOBTB2 c.1001G>T (p.Gly334Val) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1001G>T (p.Gly334Val) variant is classified as a variant of uncertain significance for developmental and epileptic encephalopathy.

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.