Submissions for variant NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)

gnomAD frequency: 0.00329  dbSNP: rs16017

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175154	SCV000226590	benign	not specified	2014-07-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000175154	SCV000523563	benign	not specified	2017-04-03	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	RCV000653345	SCV000775224	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312711	SCV000846449	benign	Inborn genetic diseases	2016-03-21	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	RCV000175154	SCV001475634	benign	not specified	2020-05-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000175154	SCV002065873	benign	not specified	2017-11-20	criteria provided, single submitter	clinical testing