Submissions for variant NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)

gnomAD frequency: 0.00093  dbSNP: rs745594874

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725346	SCV000242392	benign	not provided	2020-01-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23496026, 27123484, 22101681, 26598493, 24594579, 27907910, 31124310)
Eurofins Ntd Llc (ga)	RCV000725346	SCV000336194	uncertain significance	not provided	2015-10-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080802	SCV000645429	benign	Episodic kinesigenic dyskinesia	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317150	SCV000851175	likely benign	Inborn genetic diseases	2018-04-19	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	RCV000725346	SCV001150888	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PRRT2: BP4, BS1, BS2
Athena Diagnostics	RCV000188768	SCV001880734	benign	not specified	2021-03-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537582	SCV004746241	benign	PRRT2-related disorder	2024-03-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).