ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)

gnomAD frequency: 0.00001  dbSNP: rs752086581
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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 RCV002553233 SCV001214926 pathogenic Pontocerebellar hypoplasia type 1A 2022-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val4*) 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 (rs752086581, 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: 847284). For these reasons, this variant has been classified as Pathogenic.

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