ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)

gnomAD frequency: 0.00075  dbSNP: rs149496604
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118051 SCV000152380 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000186656 SCV000171187 benign not specified 2014-02-04 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 RCV001085376 SCV000767806 likely benign Epilepsy, progressive myoclonic, 1B 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000118051 SCV000843385 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000186656 SCV002725693 likely benign not specified 2017-09-08 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.
PreventionGenetics, part of Exact Sciences RCV003945056 SCV004760998 likely benign PRICKLE1-related disorder 2022-03-31 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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