ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793113 SCV000932453 uncertain significance Progressive myoclonus epilepsy with ataxia 2018-07-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 69 of the PRICKLE1 protein (p.Ile69Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs141795695, ExAC 0.009%). This variant has been reported in an individual affected with diastematomyelia type II and was also reported in this individual's unaffected mother (PMID: 21901791). Experimental studies have shown that this missense change disrupts protein function in vitro (PMID: 21901791). 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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