Submissions for variant NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)

dbSNP: rs554393704

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000482338	SCV000571270	benign	not provided	2020-07-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764176	SCV000895178	uncertain significance	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV001487619	SCV001692113	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2021-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367642	SCV002656590	uncertain significance	Inborn genetic diseases	2017-06-20	criteria provided, single submitter	clinical testing	The p.R2157C variant (also known as c.6469C>T), located in coding exon 45 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6469. The arginine at codon 2157 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000482338	SCV003830265	uncertain significance	not provided	2021-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985361	SCV004749346	likely benign	CACNA1A-related disorder	2021-08-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).