ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)

dbSNP: rs1566713184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000758202 SCV000950274 pathogenic Pontocerebellar hypoplasia type 1A 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln326*) 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: 619220). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001592942 SCV001816448 pathogenic not provided 2019-09-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV000758202 SCV000886513 likely pathogenic Pontocerebellar hypoplasia type 1A 2018-10-26 no assertion criteria provided clinical testing

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