ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000984503 SCV001132558 uncertain significance Pontocerebellar hypoplasia type 1A 2018-11-15 criteria provided, single submitter research The homozygous p.Arg133Gly variant in VRK1 was identified by our study in one individual with Pontocerebellar Hypoplasia. This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. However, a likely pathogenic variant curated by our study at the the same position, (p.Arg133Cys), has been reported in individuals with Pontocerebellar Hypoplasia and segregated with disease in 4 affected relatives from 1 cosanguineous family (PMID: 21937992). In summary, the clinical significance of this variant is uncertain.

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