ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)

dbSNP: rs762979613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002553209 SCV001213768 pathogenic Pontocerebellar hypoplasia type 1A 2022-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 846403). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is present in population databases (rs762979613, gnomAD 0.006%). 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).
Fulgent Genetics, Fulgent Genetics RCV005012487 SCV005630514 likely pathogenic Pontocerebellar hypoplasia type 1A; Neuronopathy, distal hereditary motor, autosomal recessive 10 2024-01-04 criteria provided, single submitter clinical testing

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