Submissions for variant NM_145239.3(PRRT2):c.225G>A (p.Pro75=)

gnomAD frequency: 0.00019  dbSNP: rs199662641

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188758	SCV000242382	benign	not specified	2015-01-19	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.
Athena Diagnostics Inc	RCV000188758	SCV000614794	benign	not specified	2017-05-12	criteria provided, single submitter	clinical testing
Invitae	RCV000864918	SCV001005803	likely benign	Episodic kinesigenic dyskinesia	2024-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200406	SCV001371356	likely benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444765	SCV002737833	likely benign	Inborn genetic diseases	2018-01-29	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001200406	SCV001932736	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001200406	SCV001964141	likely benign	not provided		no assertion criteria provided	clinical testing