Submissions for variant NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=)

gnomAD frequency: 0.00003  dbSNP: rs755434242

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000605965	SCV000722621	likely benign	not specified	2017-09-07	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	RCV000920334	SCV001065696	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431785	SCV002740874	likely benign	Inborn genetic diseases	2019-01-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.