Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001588017 | SCV001821987 | likely pathogenic | Cohen syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001588017 | SCV004438025 | pathogenic | Cohen syndrome | 2023-02-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2576*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1217353). For these reasons, this variant has been classified as Pathogenic. |