ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.8G>A (p.Arg3His)

dbSNP: rs902439355
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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 RCV002534608 SCV000936255 uncertain significance Pontocerebellar hypoplasia type 1A 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 3 of the VRK1 protein (p.Arg3His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (no rsID available, ExAC 0.006%). This missense change has been observed in individual(s) with clinical features of VRK1-related disease (Invitae). 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 tolerated. 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.

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