Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002553209 | SCV001213768 | pathogenic | Pontocerebellar hypoplasia type 1A | 2022-05-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys220*) 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 present in population databases (rs762979613, gnomAD 0.006%). 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: 846403). For these reasons, this variant has been classified as Pathogenic. |