ClinVar Miner

Submissions for variant NM_003384.3(VRK1):c.704G>A (p.Gly235Asp) (rs1311364931)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546472 SCV000639687 uncertain significance Pontocerebellar hypoplasia type 1A 2017-06-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 235 of the VRK1 protein (p.Gly235Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a VRK1-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on VRK1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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