Submissions for variant NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)

gnomAD frequency: 0.00005  dbSNP: rs560303559

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000368601	SCV000337278	benign	not specified	2015-11-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001711857	SCV000516062	benign	not provided	2021-01-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24594579)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463630	SCV000554858	likely benign	Episodic kinesigenic dyskinesia	2024-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002401988	SCV002669954	likely benign	Inborn genetic diseases	2018-09-07	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	RCV001711857	SCV004146209	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	PRRT2: BS1, BS2
GenomeConnect, ClinGen	RCV001249313	SCV001423276	not provided	Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 05-24-2016 by Lab or GTR ID 506900. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.