Submissions for variant NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)

gnomAD frequency: 0.11855  dbSNP: rs16022

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116520	SCV000202323	benign	not specified	2014-03-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116520	SCV000306693	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116520	SCV000518850	benign	not specified	2016-01-05	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.
Athena Diagnostics	RCV000116520	SCV000677210	benign	not specified	2021-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311537	SCV000845850	benign	Inborn genetic diseases	2016-03-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515629	SCV001723741	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000116520	SCV005087886	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 30% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000059296	SCV005315290	benign	not provided		criteria provided, single submitter	not provided
UniProtKB/Swiss-Prot	RCV000059296	SCV000090848	not provided	not provided		no assertion provided	not provided
Genetic Services Laboratory, University of Chicago	RCV000116520	SCV000150469	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	RCV000116520	SCV001743701	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116520	SCV001931685	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116520	SCV001973792	benign	not specified		no assertion criteria provided	clinical testing