ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) (rs754218148)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712848 SCV000843387 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing
Invitae RCV000646041 SCV000767797 uncertain significance Progressive myoclonus epilepsy with ataxia 2018-01-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 223 of the PRICKLE1 protein (p.Thr223Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs754218148, ExAC 0.02%). This variant has not been reported in the literature in individuals with PRICKLE1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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