ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.633_636del (p.Lys211fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003092789 SCV003481945 pathogenic Pontocerebellar hypoplasia type 1A 2022-08-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys211Asnfs*40) 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. For these reasons, this variant has been classified as Pathogenic.

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