Submissions for variant NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)

gnomAD frequency: 0.01053  dbSNP: rs16019

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116517	SCV000522787	benign	not specified	2016-05-24	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.
Invitae	RCV000555117	SCV000656724	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312049	SCV000846824	benign	Inborn genetic diseases	2016-02-24	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.
Athena Diagnostics Inc	RCV000116517	SCV001880020	benign	not specified	2021-06-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573143	SCV002498437	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000116517	SCV000150466	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573143	SCV001798560	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573143	SCV001931119	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116517	SCV001957088	benign	not specified		no assertion criteria provided	clinical testing