Submissions for variant NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)

gnomAD frequency: 0.00017  dbSNP: rs727503832

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723815	SCV000202319	uncertain significance	not provided	2014-02-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000723815	SCV000522843	likely benign	not provided	2021-02-24	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000693394	SCV000821262	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000723815	SCV001879692	uncertain significance	not provided	2020-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362804	SCV002659149	likely benign	Inborn genetic diseases	2019-07-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV000723815	SCV004137981	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2, PP3