Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685890 | SCV000813390 | pathogenic | Cohen syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant has not been reported in the literature in individuals with VPS13B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln978*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV000685890 | SCV000893768 | pathogenic | Cohen syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing |