ClinVar Miner

Submissions for variant NC_000014.8:g.(?_97319158)_(97322933_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003107932 SCV002241433 pathogenic Pontocerebellar hypoplasia type 1A 2022-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 6-10 of the VRK1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in VRK1 are known to be pathogenic (PMID: 19646678, 24126608, 27281532).

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