Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000758202 | SCV000950274 | pathogenic | Pontocerebellar hypoplasia type 1A | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln326*) in the VRK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VRK1 are known to be pathogenic (PMID: 19646678, 24126608, 27281532). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 619220). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001592942 | SCV001816448 | pathogenic | not provided | 2019-09-23 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Sema4, |
RCV000758202 | SCV000886513 | likely pathogenic | Pontocerebellar hypoplasia type 1A | 2018-10-26 | no assertion criteria provided | clinical testing |