Submissions for variant NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)

gnomAD frequency: 0.07737  dbSNP: rs16027

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079477	SCV000111356	benign	not specified	2016-04-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079477	SCV000306696	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000079477	SCV000512442	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 Inc	RCV000079477	SCV000841263	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311539	SCV000845848	benign	Inborn genetic diseases	2016-03-02	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	RCV001515781	SCV001723936	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483117	SCV002796707	likely benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2021-10-05	criteria provided, single submitter	clinical testing
UniProtKB/Swiss-Prot	RCV000059298	SCV000090850	not provided	not provided		no assertion provided	not provided
Genetic Services Laboratory, University of Chicago	RCV000079477	SCV000150474	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	RCV000079477	SCV001741373	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079477	SCV001927064	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079477	SCV001952003	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079477	SCV001968662	benign	not specified		no assertion criteria provided	clinical testing