ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702781 SCV000831650 uncertain significance Epilepsy, progressive myoclonic 5 2018-04-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 521 of the PRICKLE2 protein (p.Arg521Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRICKLE2-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, 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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