Submissions for variant NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)

gnomAD frequency: 0.00467  dbSNP: rs16049

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116529	SCV000230674	benign	not specified	2016-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000116529	SCV000519205	benign	not specified	2016-01-13	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	RCV000554807	SCV000656784	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313860	SCV000847448	benign	Inborn genetic diseases	2016-06-27	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	RCV000991681	SCV001143343	benign	not provided	2018-12-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490787	SCV002799973	likely benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2021-10-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116529	SCV000150480	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000991681	SCV002033983	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000116529	SCV002036593	benign	not specified		no assertion criteria provided	clinical testing