ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)

gnomAD frequency: 0.00002  dbSNP: rs184887106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002563635 SCV002228090 pathogenic Pontocerebellar hypoplasia type 1A 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp375*) in the VRK1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the VRK1 protein. This variant is present in population databases (rs184887106, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with distal hereditary motor neuropathy (PMID: 30617279, 30847374, 32298515). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1453431). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796691 SCV005417602 pathogenic Pontocerebellar hypoplasia type 1A; Neuronopathy, distal hereditary motor, autosomal recessive 10 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PM3+PP4+PP1_Moderate
OMIM RCV003387539 SCV004098885 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 10 2023-10-24 no assertion criteria provided literature only

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