ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5908+2dup

dbSNP: rs587777381
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000119263 SCV000791401 uncertain significance Cohen syndrome 2017-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000119263 SCV001576922 likely pathogenic Cohen syndrome 2023-06-07 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of Cohen syndrome (PMID: 24311531). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Studies have shown that this variant alters VPS13B gene expression (PMID: 24311531). ClinVar contains an entry for this variant (Variation ID: 132794). This variant is also known as IVS34+2T_+3AinsT. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 34 of the VPS13B gene. It does not directly change the encoded amino acid sequence of the VPS13B protein. It affects a nucleotide within the consensus splice site.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237718 SCV002011567 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000119263 SCV002549819 pathogenic Cohen syndrome 2022-06-09 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM3_STR, PM2_SUP, PP4
OMIM RCV000119263 SCV000154698 pathogenic Cohen syndrome 2014-02-01 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.