Submissions for variant NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)

gnomAD frequency: 0.00302  dbSNP: rs141743294

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000186653	SCV000114699	benign	not specified	2015-09-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082657	SCV000152377	uncertain significance	not provided	2013-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000186653	SCV000171176	benign	not specified	2013-03-19	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	RCV001083947	SCV000561681	benign	Epilepsy, progressive myoclonic, 1B	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000186653	SCV000843382	benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000186653	SCV000847423	likely benign	not specified	2018-08-07	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.
CeGaT Center for Human Genetics Tuebingen	RCV000082657	SCV001747058	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	PRICKLE1: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082657	SCV001928357	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082657	SCV001966453	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905071	SCV004718200	likely benign	PRICKLE1-related disorder	2020-07-06	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).