ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=)

dbSNP: rs758126980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436437 SCV000524640 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062676 SCV002391605 likely benign Epilepsy, progressive myoclonic, 1B 2022-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897884 SCV004710411 likely benign PRICKLE1-related disorder 2021-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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