Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000669006 | SCV000793700 | likely pathogenic | Cohen syndrome | 2017-08-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000669006 | SCV002282619 | likely pathogenic | Cohen syndrome | 2021-11-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 54 (c.10009_10017+5del) of the VPS13B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). ClinVar contains an entry for this variant (Variation ID: 553534). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. |