ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) (rs1055556905)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559131 SCV000646877 uncertain significance Progressive myoclonus epilepsy with ataxia 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 552 of the PRICKLE1 protein (p.Gly552Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic 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 PRICKLE1-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 tolerated, 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 PRICKLE1 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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