Submissions for variant NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)

gnomAD frequency: 0.02098  dbSNP: rs16050

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116530	SCV000230675	benign	not specified	2014-07-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000116530	SCV000519801	benign	not specified	2016-01-28	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	RCV000543853	SCV000656786	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312056	SCV000846395	benign	Inborn genetic diseases	2016-03-11	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.
Athena Diagnostics	RCV000991682	SCV001143344	benign	not provided	2018-10-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498502	SCV002813077	benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2022-04-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991682	SCV005314811	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116530	SCV000150481	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.