ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn)

gnomAD frequency: 0.00002  dbSNP: rs773422113
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216223 SCV001388009 uncertain significance Epilepsy, progressive myoclonic, 1B 2019-04-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 453 of the PRICKLE1 protein (p.Thr453Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs773422113, ExAC 0.006%). This variant has not been reported in the literature in individuals with PRICKLE1-related conditions. 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, 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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