ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) (rs151332996)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545733 SCV000646870 uncertain significance Progressive myoclonus epilepsy with ataxia 2017-02-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 416 of the PRICKLE1 protein (p.Thr416Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs151332996, ExAC 0.02%) but 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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