ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.238C>G (p.Leu80Val)

dbSNP: rs2139779081
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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 RCV002547924 SCV002118396 uncertain significance Pontocerebellar hypoplasia type 1A 2021-07-31 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with VRK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 80 of the VRK1 protein (p.Leu80Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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