Submissions for variant NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)

gnomAD frequency: 0.00014  dbSNP: rs17846908

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000267165	SCV000341172	likely benign	not specified	2016-05-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001718581	SCV000521008	benign	not provided	2020-01-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23103419)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951926	SCV001098378	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000267165	SCV001879712	benign	not specified	2021-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418122	SCV002676478	benign	Inborn genetic diseases	2019-10-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV003985317	SCV004765768	likely benign	CACNA1A-related disorder	2020-02-17	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).