ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) (rs1555230922)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529906 SCV000646872 uncertain significance Progressive myoclonus epilepsy with ataxia 2017-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu47Serfs*43) in the PRICKLE1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRICKLE1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRICKLE1 cause disease. 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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