Submissions for variant NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)

gnomAD frequency: 0.00006  dbSNP: rs1033214914

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000710973	SCV000841289	uncertain significance	not provided	2018-03-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001053349	SCV001217607	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000710973	SCV001986018	uncertain significance	not provided	2024-02-15	criteria provided, single submitter	clinical testing	Identified in a patient diagnosed with episodic ataxia type 2 in published literature (PMID: 20663518); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34806130, 20663518)
Ambry Genetics	RCV004026793	SCV004915150	uncertain significance	Inborn genetic diseases	2024-02-20	criteria provided, single submitter	clinical testing	Unlikely to be causative of CACNA1A-related spinocerebellar ataxia (AD) or CACNA1A-related neurologic disorder (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000710973	SCV001978560	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000710973	SCV001979516	uncertain significance	not provided		no assertion criteria provided	clinical testing