Submissions for variant NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)

gnomAD frequency: 0.64010  dbSNP: rs2248069

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079475	SCV000111354	benign	not specified	2013-05-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079475	SCV000306686	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000079475	SCV000518282	benign	not specified	2016-01-07	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.
Ambry Genetics	RCV002311575	SCV000845844	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV001511466	SCV001718715	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554425	SCV001775670	benign	Developmental and epileptic encephalopathy, 42	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554426	SCV001775671	benign	Episodic ataxia type 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554427	SCV001775672	benign	Migraine, familial hemiplegic, 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554428	SCV001775673	benign	Spinocerebellar ataxia type 6	2021-07-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079475	SCV000150462	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079475	SCV001744410	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079475	SCV001955457	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079475	SCV001973520	benign	not specified		no assertion criteria provided	clinical testing