Submissions for variant NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)

gnomAD frequency: 0.00013  dbSNP: rs190551509

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440429	SCV000534925	likely benign	not provided	2019-05-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000706830	SCV000835903	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-12-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000440429	SCV001151712	likely benign	not provided	2018-07-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000440429	SCV001713789	uncertain significance	not provided	2019-04-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000440429	SCV002770595	uncertain significance	not provided	2021-08-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003168701	SCV003865540	uncertain significance	Inborn genetic diseases	2023-03-14	criteria provided, single submitter	clinical testing	The c.3046G>A (p.G1016R) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 3046, causing the glycine (G) at amino acid position 1016 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.