ClinVar Miner

Submissions for variant NC_000014.8:g.(?_97313625)_(97324868_?)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 RCV004578097 SCV005065565 pathogenic Pontocerebellar hypoplasia type 1A 2023-09-14 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 5 and exons 6-10 (c.318_889+1945delinsTAG) of the VRK1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VRK1 are known to be pathogenic (PMID: 19646678, 24126608, 27281532). 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: 567048). This variant disrupts a region of the VRK1 protein in which other variant(s) (p.His119Arg) have been determined to be pathogenic (PMID: 26583493, 27281532, 31527692). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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