ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=)

gnomAD frequency: 0.00022  dbSNP: rs138524511
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471128 SCV000561679 likely benign Epilepsy, progressive myoclonic, 1B 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000828448 SCV000970137 likely benign not provided 2018-05-15 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.
Athena Diagnostics RCV000828448 SCV001475417 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023027 SCV002737235 likely benign not specified 2018-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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