ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) (rs570770626)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180007 SCV000232341 uncertain significance not provided 2014-07-03 criteria provided, single submitter clinical testing
Invitae RCV000475911 SCV000551465 uncertain significance Progressive myoclonus epilepsy with ataxia 2016-06-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 479 of the PRICKLE1 protein (p.Gly479Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs570770626, ExAC 0.08%) but has not been reported in the literature in individuals with a PRICKLE1-related disease. ClinVar contains an entry for this variant (Variation ID: 198621). 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. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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