Submissions for variant NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)

gnomAD frequency: 0.00039  dbSNP: rs200926711

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001711483	SCV000242393	benign	not provided	2019-10-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23077024, 22243967, 23566103, 31124310, 24594579)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000477236	SCV000554854	benign	Episodic kinesigenic dyskinesia	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314749	SCV000848946	likely benign	Inborn genetic diseases	2018-05-02	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.
Fulgent Genetics, Fulgent Genetics	RCV002492868	SCV002794628	likely benign	Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis	2021-10-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711483	SCV004146207	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PRRT2: BS2
PreventionGenetics, part of Exact Sciences	RCV004539750	SCV004774524	likely benign	PRRT2-related disorder	2020-10-23	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).