ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.222del (p.Ser75fs)

dbSNP: rs2139779014
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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 RCV003104064 SCV001583496 pathogenic Pontocerebellar hypoplasia type 1A 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser75Valfs*10) 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. ClinVar contains an entry for this variant (Variation ID: 1071599). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV004793478 SCV005414251 likely pathogenic not provided 2024-07-22 criteria provided, single submitter clinical testing PM2, PVS1

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