ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)

dbSNP: rs1223645705
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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 RCV001809826 SCV000950130 pathogenic Pontocerebellar hypoplasia type 1A 2023-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 654056). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Lys356*) 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).
Centogene AG - the Rare Disease Company RCV001809826 SCV002059511 likely pathogenic Pontocerebellar hypoplasia type 1A 2020-07-14 criteria provided, single submitter clinical testing

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