Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000050086 | SCV000220447 | likely pathogenic | Cohen syndrome | 2014-06-23 | criteria provided, single submitter | literature only | |
| Invitae | RCV000050086 | SCV003440809 | pathogenic | Cohen syndrome | 2022-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1810Serfs*21) 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 premature translational stop signal has been observed in individual(s) with VPS13B-related conditions (PMID: 12730828, 30843084). ClinVar contains an entry for this variant (Variation ID: 56673). For these reasons, this variant has been classified as Pathogenic. |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050086 | SCV000082495 | probable-pathogenic | Cohen syndrome | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
| SNPedia | RCV000058899 | SCV000090420 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |