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

gnomAD frequency: 0.00075  dbSNP: rs149496604

Total submissions: 6

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.
Invitae	RCV001085376	SCV000767806	likely benign	Epilepsy, progressive myoclonic, 1B	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000118051	SCV000843385	uncertain significance	not provided	2018-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415603	SCV002725693	likely benign	Inborn genetic diseases	2017-09-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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 condition	2022-03-31	criteria provided, single submitter	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).