ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.6del (p.Arg3fs)

gnomAD frequency: 0.00001  dbSNP: rs780789145
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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 RCV002544658 SCV000762293 pathogenic Pontocerebellar hypoplasia type 1A 2023-08-31 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: 533538). This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is present in population databases (rs780789145, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg3Valfs*2) 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 RCV005004293 SCV005630509 uncertain significance Pontocerebellar hypoplasia type 1A; Neuronopathy, distal hereditary motor, autosomal recessive 10 2024-04-14 criteria provided, single submitter clinical testing

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