Submissions for variant NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)

gnomAD frequency: 0.00390  dbSNP: rs16024

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000432960	SCV000226886	uncertain significance	not provided	2017-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000210670	SCV000262956	benign	Inborn genetic diseases	2024-09-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000432960	SCV000511435	uncertain significance	not provided	2017-01-31	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000175409	SCV000512441	benign	not specified	2016-11-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080527	SCV000656743	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2025-02-04	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000660566	SCV000782677	likely benign	Developmental and epileptic encephalopathy, 42	2017-06-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000432960	SCV000841258	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000432960	SCV002543884	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	CACNA1A: PP3, BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251922	SCV001427668	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000432960	SCV001550606	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000432960	SCV001797577	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000175409	SCV001930745	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000175409	SCV001959707	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000432960	SCV001976273	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985285	SCV004794174	benign	CACNA1A-related disorder	2024-05-09	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).